| - GRCh37:
- Chr16:23637730
- GRCh38:
- Chr16:23626409
| PALB2 | | Familial cancer of breast, Familial cancer of breast, Pancreatic cancer, susceptibility to, 3,
Fanconi anemia complementation group N | Likely benign
(Oct 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23646385
- GRCh38:
- Chr16:23635064
| PALB2 | | Familial cancer of breast, Familial cancer of breast, Fanconi anemia complementation group N,
Pancreatic cancer, susceptibility to, 3 | Likely benign
(Jan 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23641125
- GRCh38:
- Chr16:23629804
| PALB2 | K784* | Fanconi anemia complementation group N, Familial cancer of breast | Pathogenic/Likely pathogenic
(Oct 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23646679
- GRCh38:
- Chr16:23635358
| PALB2 | C396* | Fanconi anemia complementation group N | Pathogenic
(Apr 22, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr16:23647430
- GRCh38:
- Chr16:23636109
| PALB2 | R146K | not provided, Familial cancer of breast, Fanconi anemia complementation group N,
Pancreatic cancer, susceptibility to, 3 | Uncertain significance
(Feb 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23625423-23625428
- GRCh38:
- Chr16:23614102-23614107
| PALB2 | | Fanconi anemia complementation group N | Pathogenic
(Aug 25, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:23614483-23619333
| PALB2 | | Fanconi anemia complementation group N, Hereditary cancer-predisposing syndrome | not provided | no assertion provided |
| - GRCh37:
- Chr16:23649383-23649384
- GRCh38:
- Chr16:23638062-23638063
| PALB2 | | Familial cancer of breast, Fanconi anemia complementation group N, Pancreatic cancer, susceptibility to, 3,
Familial cancer of breast | Likely benign
(Jan 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23641259
- GRCh38:
- Chr16:23629938
| PALB2 | P739L | Familial cancer of breast, Fanconi anemia complementation group N, Pancreatic cancer, susceptibility to, 3,
Familial cancer of breast | Uncertain significance
(Apr 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23647508
- GRCh38:
- Chr16:23636187
| PALB2 | R120T | Pancreatic cancer, susceptibility to, 3, Familial cancer of breast, Fanconi anemia complementation group N,
Familial cancer of breast | Uncertain significance
(Apr 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23635317
- GRCh38:
- Chr16:23623996
| PALB2 | | Familial cancer of breast, Fanconi anemia complementation group N, Pancreatic cancer, susceptibility to, 3,
Hereditary cancer-predisposing syndrome, Familial cancer of breast | Likely benign
(Mar 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23652586
- GRCh38:
- Chr16:23641265
| PALB2 | | Fanconi anemia complementation group N | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:23652515
- GRCh38:
- Chr16:23641194
| PALB2 | | Fanconi anemia complementation group N | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:23614939
- GRCh38:
- Chr16:23603618
| PALB2 | | Hereditary cancer-predisposing syndrome, Familial cancer of breast, Fanconi anemia complementation group N
| Conflicting interpretations of pathogenicity
(Aug 31, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:23619237-23619241
- GRCh38:
- Chr16:23607916-23607920
| PALB2 | K1098fs | Fanconi anemia complementation group N | Pathogenic
(May 13, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr16:23637719-23652430
| PALB2 | | Fanconi anemia complementation group N | Pathogenic
(May 13, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr16:23625413-23652678
| PALB2 | | Fanconi anemia complementation group N | Pathogenic
(May 13, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr16:23647088
- GRCh38:
- Chr16:23635767
| PALB2 | Q260R | Hereditary cancer-predisposing syndrome, Familial cancer of breast, Pancreatic cancer, susceptibility to, 3,
Familial cancer of breast, Fanconi anemia complementation group N | Uncertain significance
(Mar 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23647479
- GRCh38:
- Chr16:23636158
| PALB2 | H130Y | Familial cancer of breast, Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group N
| Conflicting interpretations of pathogenicity
(Oct 11, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:23647034
- GRCh38:
- Chr16:23635713
| PALB2 | L278Q | Hereditary cancer-predisposing syndrome, Familial cancer of breast, Pancreatic cancer, susceptibility to, 3,
Fanconi anemia complementation group N | Uncertain significance
(Mar 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23646549
- GRCh38:
- Chr16:23635228
| PALB2 | F440L | Familial cancer of breast, Pancreatic cancer, susceptibility to, 3, Familial cancer of breast,
Fanconi anemia complementation group N, Hereditary cancer-predisposing syndrome | Uncertain significance
(Apr 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23646678
- GRCh38:
- Chr16:23635357
| PALB2 | T397P | Familial cancer of breast, Pancreatic cancer, susceptibility to, 3, Fanconi anemia complementation group N,
Hereditary cancer-predisposing syndrome | Uncertain significance
(Sep 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23646763
- GRCh38:
- Chr16:23635442
| PALB2 | N368K | Hereditary cancer-predisposing syndrome, Pancreatic cancer, susceptibility to, 3, Familial cancer of breast,
Fanconi anemia complementation group N, Familial cancer of breast | Uncertain significance
(Jan 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23635378-23635379
- GRCh38:
- Chr16:23624057-23624058
| PALB2 | Y929I | Familial cancer of breast, Hereditary cancer-predisposing syndrome, Pancreatic cancer, susceptibility to, 3,
Familial cancer of breast, Fanconi anemia complementation group N | Uncertain significance
(May 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23641478
- GRCh38:
- Chr16:23630157
| PALB2 | T666I | Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group N, Familial cancer of breast,
Pancreatic cancer, susceptibility to, 3, Familial cancer of breast | Uncertain significance
(Jan 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23641613
- GRCh38:
- Chr16:23630292
| PALB2 | P621L | Familial cancer of breast, Fanconi anemia complementation group N, Pancreatic cancer, susceptibility to, 3,
Hereditary cancer-predisposing syndrome | Uncertain significance
(Nov 4, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23635337
- GRCh38:
- Chr16:23624016
| PALB2 | E943K | Fanconi anemia complementation group N, Familial cancer of breast, Pancreatic cancer, susceptibility to, 3,
Hereditary cancer-predisposing syndrome | Uncertain significance
(May 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23649214
- GRCh38:
- Chr16:23637893
| PALB2 | | Hereditary cancer-predisposing syndrome, Pancreatic cancer, susceptibility to, 3, Fanconi anemia complementation group N,
Familial cancer of breast, Familial cancer of breast | Likely benign
(Apr 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23641139
- GRCh38:
- Chr16:23629818
| PALB2 | S779L | Hereditary cancer-predisposing syndrome, Familial cancer of breast, Pancreatic cancer, susceptibility to, 3,
Fanconi anemia complementation group N, Familial cancer of breast | Uncertain significance
(Aug 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23647546
- GRCh38:
- Chr16:23636225
| PALB2 | F107L | Familial cancer of breast, Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group N
| Uncertain significance
(Jul 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23637646
- GRCh38:
- Chr16:23626325
| PALB2 | I887V | Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group N, Pancreatic cancer, susceptibility to, 3,
Familial cancer of breast, Familial cancer of breast, Fanconi anemia complementation group N
| Uncertain significance
(Sep 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23632759
- GRCh38:
- Chr16:23621438
| PALB2 | I1013V | Familial cancer of breast, Fanconi anemia complementation group N, Familial cancer of breast,
Pancreatic cancer, susceptibility to, 3 | Uncertain significance
(May 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23649269
- GRCh38:
- Chr16:23637948
| PALB2 | A38V | Familial cancer of breast, Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group N,
Familial cancer of breast, Pancreatic cancer, susceptibility to, 3 | Uncertain significance
(Jan 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23646717
- GRCh38:
- Chr16:23635396
| PALB2 | E384K | Hereditary cancer-predisposing syndrome, Familial cancer of breast, Fanconi anemia complementation group N,
Pancreatic cancer, susceptibility to, 3, Familial cancer of breast | Uncertain significance
(Oct 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23640571
- GRCh38:
- Chr16:23629250
| PALB2 | S847C | Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group N, Pancreatic cancer, susceptibility to, 3,
Familial cancer of breast, Familial cancer of breast | Conflicting interpretations of pathogenicity
(Oct 5, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:23641044-23641045
- GRCh38:
- Chr16:23629723-23629724
| PALB2 | P811fs | Fanconi anemia complementation group N, Pancreatic cancer, susceptibility to, 3, Familial cancer of breast,
not provided, Familial cancer of breast | Pathogenic/Likely pathogenic
(Apr 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23641208
- GRCh38:
- Chr16:23629887
| PALB2 | C756Y | Hereditary cancer-predisposing syndrome, Familial cancer of breast, Fanconi anemia complementation group N
| Conflicting interpretations of pathogenicity
(Nov 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:23635360
- GRCh38:
- Chr16:23624039
| PALB2 | A935G | Familial cancer of breast, Hereditary cancer-predisposing syndrome, Familial cancer of breast,
Fanconi anemia complementation group N, Pancreatic cancer, susceptibility to, 3 | Uncertain significance
(Oct 18, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23635387
- GRCh38:
- Chr16:23624066
| PALB2 | P926L | Hereditary cancer-predisposing syndrome, Familial cancer of breast, Fanconi anemia complementation group N,
Pancreatic cancer, susceptibility to, 3, Familial cancer of breast | Uncertain significance
(Nov 17, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23634425
- GRCh38:
- Chr16:23623104
| PALB2 | E954G | Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group N, Pancreatic cancer, susceptibility to, 3,
Familial cancer of breast, Familial cancer of breast, not provided
| Uncertain significance
(Oct 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23646703
- GRCh38:
- Chr16:23635382
| PALB2 | | Hereditary cancer-predisposing syndrome, not specified, Familial cancer of breast,
Pancreatic cancer, susceptibility to, 3, Fanconi anemia complementation group N, Familial cancer of breast
| Likely benign
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23635317
- GRCh38:
- Chr16:23623996
| PALB2 | | Hereditary cancer-predisposing syndrome, not specified, Familial cancer of breast,
Pancreatic cancer, susceptibility to, 3, Fanconi anemia complementation group N, Familial cancer of breast
| Likely benign
(Oct 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23647564
- GRCh38:
- Chr16:23636243
| PALB2 | D101E | Fanconi anemia complementation group N, not specified, Hereditary cancer-predisposing syndrome
| Uncertain significance
(Aug 23, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23634276
- GRCh38:
- Chr16:23622955
| PALB2 | | Fanconi anemia complementation group N, Hereditary cancer-predisposing syndrome, Familial cancer of breast
| Conflicting interpretations of pathogenicity
(Jun 16, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:23646724-23646727
- GRCh38:
- Chr16:23635403-23635406
| PALB2 | S380fs | Familial cancer of breast, Hereditary cancer-predisposing syndrome, Familial cancer of breast,
Fanconi anemia complementation group N, Pancreatic cancer, susceptibility to, 3, not specified
| Pathogenic
(Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23646172
- GRCh38:
- Chr16:23634851
| PALB2 | | Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group N, Familial cancer of breast
| Conflicting interpretations of pathogenicity
(Oct 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:23646737
- GRCh38:
- Chr16:23635416
| PALB2 | Q377P | Familial cancer of breast, Fanconi anemia complementation group N, Pancreatic cancer, susceptibility to, 3,
not specified, Familial cancer of breast, Hereditary cancer-predisposing syndrome
| Uncertain significance
(Sep 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23649285
- GRCh38:
- Chr16:23637964
| PALB2 | | not provided, Hereditary cancer-predisposing syndrome, Familial cancer of breast,
Fanconi anemia complementation group N | Conflicting interpretations of pathogenicity
(Oct 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:23641449
- GRCh38:
- Chr16:23630128
| PALB2 | I676L | Pancreatic cancer, susceptibility to, 3, Familial cancer of breast, Fanconi anemia complementation group N,
Familial cancer of breast, Hereditary cancer-predisposing syndrome | Uncertain significance
(May 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23646337
- GRCh38:
- Chr16:23635016
| PALB2 | R510S | Hereditary cancer-predisposing syndrome, Pancreatic cancer, susceptibility to, 3, Familial cancer of breast,
Fanconi anemia complementation group N, Familial cancer of breast | Uncertain significance
(May 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23634366
- GRCh38:
- Chr16:23623045
| PALB2 | K974E | Familial cancer of breast, Pancreatic cancer, susceptibility to, 3, Fanconi anemia complementation group N,
Hereditary cancer-predisposing syndrome, not provided, Familial cancer of breast
| Uncertain significance
(Aug 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23641673
- GRCh38:
- Chr16:23630352
| PALB2 | K601R | not specified, Hereditary cancer-predisposing syndrome, Familial cancer of breast,
Pancreatic cancer, susceptibility to, 3, Fanconi anemia complementation group N | Uncertain significance
(Feb 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23647264
- GRCh38:
- Chr16:23635943
| PALB2 | S201R | Hereditary cancer-predisposing syndrome, Familial cancer of breast, Fanconi anemia complementation group N,
Pancreatic cancer, susceptibility to, 3, not specified, Familial cancer of breast
| Uncertain significance
(Jun 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23646899
- GRCh38:
- Chr16:23635578
| PALB2 | A323V | Familial cancer of breast, Fanconi anemia complementation group N, Pancreatic cancer, susceptibility to, 3,
Hereditary cancer-predisposing syndrome, not provided, Familial cancer of breast
| Uncertain significance
(Sep 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23646527
- GRCh38:
- Chr16:23635206
| PALB2 | A447E | Familial cancer of breast, Fanconi anemia complementation group N, Pancreatic cancer, susceptibility to, 3,
Hereditary cancer-predisposing syndrome, Familial cancer of breast | Uncertain significance
(Jun 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23641241
- GRCh38:
- Chr16:23629920
| PALB2 | K745R | Familial cancer of breast, Fanconi anemia complementation group N, Pancreatic cancer, susceptibility to, 3,
Hereditary cancer-predisposing syndrome, not provided, Familial cancer of breast
| Uncertain significance
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23647039
- GRCh38:
- Chr16:23635718
| PALB2 | | Fanconi anemia complementation group N, Hereditary cancer-predisposing syndrome, Familial cancer of breast,
not provided | Conflicting interpretations of pathogenicity
(Oct 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:23647149
- GRCh38:
- Chr16:23635828
| PALB2 | P240T | Hereditary cancer-predisposing syndrome, Familial cancer of breast, Fanconi anemia complementation group N
| Conflicting interpretations of pathogenicity
(Sep 24, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:23614947
- GRCh38:
- Chr16:23603626
| PALB2 | | Hereditary cancer-predisposing syndrome, Familial cancer of breast, Fanconi anemia complementation group N,
not specified | Conflicting interpretations of pathogenicity
(Sep 20, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:23619318
- GRCh38:
- Chr16:23607997
| PALB2 | V1073F | Pancreatic cancer, susceptibility to, 3, Fanconi anemia complementation group N, Familial cancer of breast,
Hereditary cancer-predisposing syndrome, Familial cancer of breast | Uncertain significance
(Apr 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23635343
- GRCh38:
- Chr16:23624022
| PALB2 | I941V | Hereditary cancer-predisposing syndrome, Familial cancer of breast, Pancreatic cancer, susceptibility to, 3,
Fanconi anemia complementation group N, Familial cancer of breast, not provided
| Uncertain significance
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23635380
- GRCh38:
- Chr16:23624059
| PALB2 | | Familial cancer of breast, Hereditary cancer-predisposing syndrome, Pancreatic cancer, susceptibility to, 3,
Familial cancer of breast, Fanconi anemia complementation group N | Likely benign
(Oct 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23635390
- GRCh38:
- Chr16:23624069
| PALB2 | V925A | Pancreatic cancer, susceptibility to, 3, Fanconi anemia complementation group N, Familial cancer of breast,
Hereditary cancer-predisposing syndrome, Familial cancer of breast | Uncertain significance
(Sep 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23652461
- GRCh38:
- Chr16:23641140
| PALB2 | | Hereditary cancer-predisposing syndrome, Pancreatic cancer, susceptibility to, 3, Fanconi anemia complementation group N,
Familial cancer of breast, Familial cancer of breast | Likely benign
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23646239
- GRCh38:
- Chr16:23634918
| PALB2 | K543T | Pancreatic cancer, susceptibility to, 3, Fanconi anemia complementation group N, Familial cancer of breast,
Familial cancer of breast | Uncertain significance
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23634408
- GRCh38:
- Chr16:23623087
| PALB2 | | Hereditary cancer-predisposing syndrome, Pancreatic cancer, susceptibility to, 3, Familial cancer of breast,
Fanconi anemia complementation group N, not provided, Familial cancer of breast
| Pathogenic/Likely pathogenic
(Feb 6, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23619315
- GRCh38:
- Chr16:23607994
| PALB2 | L1074V | Hereditary cancer-predisposing syndrome, Pancreatic cancer, susceptibility to, 3, Familial cancer of breast,
Fanconi anemia complementation group N, not provided, Familial cancer of breast
| Uncertain significance
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23632771
- GRCh38:
- Chr16:23621450
| PALB2 | P1009S | Pancreatic cancer, susceptibility to, 3, Familial cancer of breast, Fanconi anemia complementation group N,
Familial cancer of breast, Hereditary cancer-predisposing syndrome, not provided
| Uncertain significance
(Oct 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23641064
- GRCh38:
- Chr16:23629743
| PALB2 | S804F | Hereditary cancer-predisposing syndrome, not provided, Familial cancer of breast,
Pancreatic cancer, susceptibility to, 3, Familial cancer of breast, Fanconi anemia complementation group N
| Uncertain significance
(Jul 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23641051
- GRCh38:
- Chr16:23629730
| PALB2 | | Familial cancer of breast, Fanconi anemia complementation group N, Pancreatic cancer, susceptibility to, 3,
Hereditary cancer-predisposing syndrome, Familial cancer of breast, not provided
| Likely benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23614909
- GRCh38:
- Chr16:23603588
| PALB2 | | not provided, Hereditary cancer-predisposing syndrome, Familial cancer of breast,
Pancreatic cancer, susceptibility to, 3, Familial cancer of breast, Fanconi anemia complementation group N,
not specified | Likely benign
(Sep 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23635416
- GRCh38:
- Chr16:23624095
| PALB2 | | not provided, Familial cancer of breast | Likely pathogenic
(Aug 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23647357
- GRCh38:
- Chr16:23636036
| PALB2 | R170S | Fanconi anemia complementation group N, Familial cancer of breast, Hereditary cancer-predisposing syndrome
| Uncertain significance
(Oct 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23641212
- GRCh38:
- Chr16:23629891
| PALB2 | C755R | Familial cancer of breast, Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group N,
Familial cancer of breast, Pancreatic cancer, susceptibility to, 3 | Uncertain significance
(Oct 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23619210
- GRCh38:
- Chr16:23607889
| PALB2 | C1109R | Familial cancer of breast, Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group N,
Pancreatic cancer, susceptibility to, 3, Familial cancer of breast | Uncertain significance
(Sep 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23641244
- GRCh38:
- Chr16:23629923
| PALB2 | E744G | Familial cancer of breast, Fanconi anemia complementation group N, Pancreatic cancer, susceptibility to, 3,
Familial cancer of breast | Uncertain significance
(Nov 8, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23641346
- GRCh38:
- Chr16:23630025
| PALB2 | T710M | Hereditary cancer-predisposing syndrome, not specified, not provided,
Familial cancer of breast, Fanconi anemia complementation group N, Pancreatic cancer, susceptibility to, 3,
Familial cancer of breast | Uncertain significance
(Feb 16, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23637575
- GRCh38:
- Chr16:23626254
| PALB2 | Y910* | not provided, Familial cancer of breast, Hereditary cancer-predisposing syndrome,
Fanconi anemia complementation group N, Familial cancer of breast, Pancreatic cancer, susceptibility to, 3
| Pathogenic/Likely pathogenic
(Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23619239
- GRCh38:
- Chr16:23607918
| PALB2 | T1099M | Hereditary cancer-predisposing syndrome, Familial cancer of breast, Fanconi anemia complementation group N,
Pancreatic cancer, susceptibility to, 3, Familial cancer of breast, not provided
| Uncertain significance
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23646375
- GRCh38:
- Chr16:23635054
| PALB2 | D498N | Hereditary cancer-predisposing syndrome, Familial cancer of breast, Fanconi anemia complementation group N,
Pancreatic cancer, susceptibility to, 3, Familial cancer of breast | Uncertain significance
(May 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23646650
- GRCh38:
- Chr16:23635329
| PALB2 | A406V | Hereditary cancer-predisposing syndrome, not provided, Familial cancer of breast,
Fanconi anemia complementation group N, Pancreatic cancer, susceptibility to, 3, Familial cancer of breast
| Uncertain significance
(Oct 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23641100
- GRCh38:
- Chr16:23629779
| PALB2 | S792* | Fanconi anemia complementation group N, Familial cancer of breast | Pathogenic
(Jan 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23646330
- GRCh38:
- Chr16:23635009
| PALB2 | T513A | Hereditary cancer-predisposing syndrome, Familial cancer of breast, Fanconi anemia complementation group N,
Pancreatic cancer, susceptibility to, 3, not provided, Familial cancer of breast
| Uncertain significance
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23641779
- GRCh38:
- Chr16:23630458
| PALB2 | R566C | Fanconi anemia complementation group N, Pancreatic cancer, susceptibility to, 3, Familial cancer of breast,
Hereditary cancer-predisposing syndrome, not provided, Familial cancer of breast
| Uncertain significance
(Oct 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23649255
- GRCh38:
- Chr16:23637934
| PALB2 | K43E | not provided, Hereditary cancer-predisposing syndrome, Familial cancer of breast,
Fanconi anemia complementation group N, Pancreatic cancer, susceptibility to, 3, Familial cancer of breast
| Uncertain significance
(Oct 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23641716
- GRCh38:
- Chr16:23630395
| PALB2 | A587T | Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group N, Familial cancer of breast,
Pancreatic cancer, susceptibility to, 3, Familial cancer of breast | Uncertain significance
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23646484
- GRCh38:
- Chr16:23635163
| PALB2 | S461R | Hereditary cancer-predisposing syndrome, not specified, not provided,
Familial cancer of breast, Fanconi anemia complementation group N, Familial cancer of breast,
Pancreatic cancer, susceptibility to, 3 | Uncertain significance
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23635332
- GRCh38:
- Chr16:23624011
| PALB2 | R945fs | Familial cancer of breast, Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group N
| Pathogenic/Likely pathogenic
(Mar 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23641002
- GRCh38:
- Chr16:23629681
| PALB2 | R825G | Fanconi anemia complementation group N, Pancreatic cancer, susceptibility to, 3, Familial cancer of breast,
Hereditary cancer-predisposing syndrome, Familial cancer of breast | Uncertain significance
(Jul 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23649393
- GRCh38:
- Chr16:23638072
| PALB2 | Q36* | Hereditary cancer-predisposing syndrome, not provided, Fanconi anemia complementation group N,
Pancreatic cancer, susceptibility to, 3, Familial cancer of breast, Familial cancer of breast
| Pathogenic
(Sep 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23649433
- GRCh38:
- Chr16:23638112
| PALB2 | | Hereditary cancer-predisposing syndrome, not provided, Familial cancer of breast,
Fanconi anemia complementation group N | Conflicting interpretations of pathogenicity
(Oct 8, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:23646256
- GRCh38:
- Chr16:23634935
| PALB2 | | Familial cancer of breast, Hereditary cancer-predisposing syndrome, not provided,
Fanconi anemia complementation group N | Conflicting interpretations of pathogenicity
(Sep 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:23647673-23647674
- GRCh38:
- Chr16:23636352-23636353
| PALB2 | | Hereditary cancer-predisposing syndrome, not provided, Familial cancer of breast,
Pancreatic cancer, susceptibility to, 3, Fanconi anemia complementation group N, Familial cancer of breast
| Benign/Likely benign
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23619334
- GRCh38:
- Chr16:23608013
| PALB2 | | Hereditary cancer-predisposing syndrome, Familial cancer of breast, Pancreatic cancer, susceptibility to, 3,
Fanconi anemia complementation group N, Familial cancer of breast | Pathogenic/Likely pathogenic
(Aug 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23652627
- GRCh38:
- Chr16:23641306
| PALB2 | | Fanconi anemia complementation group N, Hereditary cancer-predisposing syndrome | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:23649269
- GRCh38:
- Chr16:23637948
| PALB2 | A38G | Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group N, Familial cancer of breast
| Uncertain significance
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23647134
- GRCh38:
- Chr16:23635813
| PALB2 | A245P | Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group N, Familial cancer of breast
| Uncertain significance
(Aug 28, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23641040
- GRCh38:
- Chr16:23629719
| PALB2 | P812L | Hereditary cancer-predisposing syndrome, not provided, Familial cancer of breast,
Pancreatic cancer, susceptibility to, 3, Fanconi anemia complementation group N, Familial cancer of breast
| Uncertain significance
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23641278
- GRCh38:
- Chr16:23629957
| PALB2 | T733A | Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group N, Familial cancer of breast,
Pancreatic cancer, susceptibility to, 3, not provided, Familial cancer of breast
| Uncertain significance
(Apr 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23641327
- GRCh38:
- Chr16:23630006
| PALB2 | N716K | Hereditary cancer-predisposing syndrome, Pancreatic cancer, susceptibility to, 3, Familial cancer of breast,
Fanconi anemia complementation group N, not provided, Familial cancer of breast
| Conflicting interpretations of pathogenicity
(Nov 4, 2022) | criteria provided, conflicting interpretations |