| - GRCh37:
- Chr9:98011450
- GRCh38:
- Chr9:95249168
| FANCC | Q42* | Fanconi anemia complementation group C | Likely pathogenic (Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:97873920-98002930
| FANCC | | Fanconi anemia complementation group C | Likely pathogenic (Nov 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:97912331
- GRCh38:
- Chr9:95150049
| AOPEP, FANCC | C187fs | Fanconi anemia complementation group C | Likely pathogenic (May 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:98009739
- GRCh38:
- Chr9:95247457
| FANCC | C75* | Fanconi anemia complementation group C | Likely pathogenic (Apr 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:98002993-98002994
- GRCh38:
- Chr9:95240711-95240712
| FANCC | C95fs | Fanconi anemia complementation group C | Likely pathogenic (Mar 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:97912207-97912208
- GRCh38:
- Chr9:95149925-95149926
| AOPEP, FANCC | L228fs | Fanconi anemia complementation group C | Likely pathogenic (Mar 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:98002960-98002961
- GRCh38:
- Chr9:95240678-95240679
| FANCC | G106fs | Fanconi anemia complementation group C | Likely pathogenic (Feb 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:98009715
- GRCh38:
- Chr9:95247433
| FANCC | Y83* | Fanconi anemia complementation group C | Likely pathogenic (Feb 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:97879640
- GRCh38:
- Chr9:95117358
| AOPEP, FANCC | Y343* | Fanconi anemia complementation group C | Likely pathogenic (Nov 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr9:97897649
- GRCh38:
- Chr9:95135367
| AOPEP, FANCC | C274* | Fanconi anemia complementation group C | Likely pathogenic (Jan 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:97933368
- GRCh38:
- Chr9:95171086
| FANCC | Q172* | Fanconi anemia complementation group C | Likely pathogenic (Aug 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:98003017
- GRCh38:
- Chr9:95240735
| FANCC | Q87* | Fanconi anemia complementation group C | Pathogenic (May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:97864012-97864013
- GRCh38:
- Chr9:95101730-95101731
| FANCC, AOPEP | K552* | Fanconi anemia complementation group C | Pathogenic (May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:98011392
- GRCh38:
- Chr9:95249110
| FANCC | | Fanconi anemia, Fanconi anemia complementation group C | Likely benign (Sep 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:97897616
- GRCh38:
- Chr9:95135334
| AOPEP, FANCC | | Fanconi anemia complementation group C, Fanconi anemia | Likely benign (Sep 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:97888797
- GRCh38:
- Chr9:95126515
| AOPEP, FANCC | | Fanconi anemia, Fanconi anemia complementation group C | Likely benign (Aug 3, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:97873822
- GRCh38:
- Chr9:95111540
| AOPEP, FANCC | P418S | Fanconi anemia, Fanconi anemia complementation group C, Hereditary cancer-predisposing syndrome
| Uncertain significance (Jul 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:98002983-98002992
- GRCh38:
- Chr9:95240701-95240710
| FANCC | C95fs | Hereditary cancer-predisposing syndrome, Fanconi anemia, Fanconi anemia complementation group C
| Pathogenic/Likely pathogenic (Feb 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:97912248
- GRCh38:
- Chr9:95149966
| AOPEP, FANCC | L215F | Fanconi anemia complementation group C | Uncertain significance (Jan 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:97864133-97873744
| FANCC | | Fanconi anemia complementation group C | Likely pathogenic (Jan 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:98011572
- GRCh38:
- Chr9:95249290
| FANCC | M1T | Fanconi anemia complementation group C | Likely pathogenic (Jun 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr9:97879667
- GRCh38:
- Chr9:95117385
| AOPEP, FANCC | F335fs | Fanconi anemia complementation group C | Pathogenic (Sep 30, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr9:98011560
- GRCh38:
- Chr9:95249278
| FANCC | S5L | Fanconi anemia complementation group C, not provided, Fanconi anemia
| Uncertain significance (Sep 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:97897654
- GRCh38:
- Chr9:95135372
| AOPEP, FANCC | E273Q | Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group C | Uncertain significance (Nov 3, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:97933391
- GRCh38:
- Chr9:95171109
| FANCC | N164T | Fanconi anemia complementation group C, Fanconi anemia, not provided, Hereditary cancer-predisposing syndrome | Uncertain significance (Jun 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:97887447
- GRCh38:
- Chr9:95125165
| AOPEP, FANCC | D306V | Hereditary cancer-predisposing syndrome, not provided, Fanconi anemia complementation group C
| Uncertain significance (Dec 3, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:97933252
- GRCh38:
- Chr9:95170970
| FANCC | | Fanconi anemia complementation group C, not provided | Benign (Jul 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:97869378
- GRCh38:
- Chr9:95107096
| AOPEP, FANCC | | Hereditary cancer-predisposing syndrome, Fanconi anemia, Fanconi anemia complementation group C
| Likely benign (Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:97933422
- GRCh38:
- Chr9:95171140
| FANCC | V154fs | Fanconi anemia complementation group C, Fanconi anemia | Pathogenic/Likely pathogenic (Oct 15, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:97869335
- GRCh38:
- Chr9:95107053
| AOPEP, FANCC | | Fanconi anemia complementation group C, Fanconi anemia, not provided
| Benign/Likely benign (Apr 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:98002983
- GRCh38:
- Chr9:95240701
| FANCC | I98T | Fanconi anemia, Fanconi anemia complementation group C | Uncertain significance (Sep 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:97869526
- GRCh38:
- Chr9:95107244
| AOPEP, FANCC | H452R | Fanconi anemia complementation group C, Hereditary cancer-predisposing syndrome, Fanconi anemia
| Conflicting interpretations of pathogenicity (Dec 7, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:97897737
- GRCh38:
- Chr9:95135455
| AOPEP, FANCC | R245Q | Fanconi anemia, Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group C
| Uncertain significance (Jun 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:97876929
- GRCh38:
- Chr9:95114647
| AOPEP, FANCC | V379A | Hereditary cancer-predisposing syndrome, Fanconi anemia, Fanconi anemia complementation group C
| Uncertain significance (Sep 20, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:97873630
- GRCh38:
- Chr9:95111348
| FANCC, AOPEP | | Fanconi anemia complementation group C | Uncertain significance (Jul 27, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr9:97912308
- GRCh38:
- Chr9:95150026
| AOPEP, FANCC | D195H | Hereditary cancer-predisposing syndrome, not provided, Fanconi anemia complementation group C
| Uncertain significance (May 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:97912226
- GRCh38:
- Chr9:95149944
| AOPEP, FANCC | A222D | Hereditary cancer-predisposing syndrome, Fanconi anemia | Uncertain significance (Oct 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:97933418
- GRCh38:
- Chr9:95171136
| FANCC | L155* | Fanconi anemia complementation group C | Likely pathogenic (Apr 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr9:97912230
- GRCh38:
- Chr9:95149948
| AOPEP, FANCC | E221* | Fanconi anemia complementation group C | Likely pathogenic (Dec 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr9:97897678
- GRCh38:
- Chr9:95135396
| AOPEP, FANCC | E265* | Fanconi anemia complementation group C | Likely pathogenic (Dec 25, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr9:97879640
- GRCh38:
- Chr9:95117358
| AOPEP, FANCC | Y343* | Fanconi anemia complementation group C | Likely pathogenic (Apr 12, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr9:97876981
- GRCh38:
- Chr9:95114699
| AOPEP, FANCC | G362* | Fanconi anemia complementation group C | Likely pathogenic (Feb 2, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr9:98003001
- GRCh38:
- Chr9:95240719
| FANCC | W92* | Fanconi anemia complementation group C | Likely pathogenic (Apr 29, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr9:98002953
- GRCh38:
- Chr9:95240671
| FANCC | S108* | Fanconi anemia complementation group C | Likely pathogenic (Mar 7, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr9:97934422
- GRCh38:
- Chr9:95172140
| FANCC | L118* | Fanconi anemia complementation group C | Likely pathogenic (Oct 24, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr9:97873764
- GRCh38:
- Chr9:95111482
| FANCC, AOPEP | Q437R | Hereditary cancer-predisposing syndrome, Fanconi anemia, Fanconi anemia complementation group C, not provided | Uncertain significance (Feb 9, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:97887362
- GRCh38:
- Chr9:95125080
| AOPEP, FANCC | | Fanconi anemia complementation group C, not provided, Fanconi anemia
| Uncertain significance (Oct 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:97873830
- GRCh38:
- Chr9:95111548
| FANCC, AOPEP | A415E | Hereditary cancer-predisposing syndrome, Fanconi anemia | Conflicting interpretations of pathogenicity (Aug 28, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:98076429-98084928
- GRCh38:
- Chr9:95314147-95322646
| FANCC | | Fanconi anemia complementation group C | Uncertain significance (Jun 25, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr9:97864067-97864068
- GRCh38:
- Chr9:95101785-95101786
| FANCC, AOPEP | W533* | Fanconi anemia complementation group C | Pathogenic (Feb 28, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr9:97864115-97864116
- GRCh38:
- Chr9:95101833-95101834
| AOPEP, FANCC | I518fs | Fanconi anemia complementation group C | Pathogenic (Feb 28, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr9:97869387
- GRCh38:
- Chr9:95107105
| FANCC, AOPEP | | Fanconi anemia complementation group C | Pathogenic (Feb 28, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr9:97873866
- GRCh38:
- Chr9:95111584
| AOPEP, FANCC | W403* | Fanconi anemia complementation group C | Pathogenic (Feb 28, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr9:97873920
- GRCh38:
- Chr9:95111638
| AOPEP, FANCC | | Fanconi anemia complementation group C, Fanconi anemia | Likely pathogenic (Feb 15, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:97887368
- GRCh38:
- Chr9:95125086
| AOPEP, FANCC | | Fanconi anemia complementation group C | Likely pathogenic (Jul 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr9:97912229
- GRCh38:
- Chr9:95149947
| AOPEP, FANCC | E221fs | Fanconi anemia complementation group C | Pathogenic (Feb 28, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr9:97934430-98009713
| FANCC | | Fanconi anemia complementation group C | Pathogenic (Feb 28, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr9:98006631-98010418
- GRCh38:
- Chr9:95244349-95248136
| FANCC | | Fanconi anemia complementation group C | Pathogenic (Feb 28, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr9:98011565-98011566
- GRCh38:
- Chr9:95249283-95249284
| FANCC | Q3fs | Fanconi anemia complementation group C | Uncertain significance (Feb 28, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr9:98003026-98079991
| FANCC | | Fanconi anemia complementation group C | Pathogenic (Feb 28, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr9:97912323
- GRCh38:
- Chr9:95150041
| AOPEP, FANCC | L190F | Fanconi anemia, Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group C
| Uncertain significance (Jun 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:97933415
- GRCh38:
- Chr9:95171133
| FANCC | S156fs | Fanconi anemia complementation group C | Pathogenic (Feb 28, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr9:98076122-98079991
- GRCh38:
- Chr9:95313840-95317709
| FANCC | | Fanconi anemia complementation group C | Pathogenic (Feb 28, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr9:97863412
- GRCh38:
- Chr9:95101130
| FANCC, AOPEP | | Fanconi anemia complementation group C | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:97863402
- GRCh38:
- Chr9:95101120
| FANCC, AOPEP | | Fanconi anemia complementation group C | Likely benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:97863329
- GRCh38:
- Chr9:95101047
| AOPEP, FANCC | | Fanconi anemia complementation group C | Likely benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:97862088
- GRCh38:
- Chr9:95099806
| AOPEP, FANCC | | Fanconi anemia complementation group C | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:97862013
- GRCh38:
- Chr9:95099731
| AOPEP, FANCC | | Fanconi anemia complementation group C | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:97864140
- GRCh38:
- Chr9:95101858
| FANCC, AOPEP | | Fanconi anemia complementation group C | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:97863005
- GRCh38:
- Chr9:95100723
| AOPEP, FANCC | | Fanconi anemia complementation group C | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:97862961
- GRCh38:
- Chr9:95100679
| FANCC, AOPEP | | Fanconi anemia complementation group C | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:97862930
- GRCh38:
- Chr9:95100648
| FANCC, AOPEP | | Fanconi anemia complementation group C | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:97862893
- GRCh38:
- Chr9:95100611
| AOPEP, FANCC | | Fanconi anemia complementation group C | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:97862792
- GRCh38:
- Chr9:95100510
| AOPEP, FANCC | | Fanconi anemia complementation group C | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:97861825
- GRCh38:
- Chr9:95099543
| FANCC, AOPEP | | Fanconi anemia complementation group C | Likely benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:97861825
- GRCh38:
- Chr9:95099543
| FANCC, AOPEP | | Fanconi anemia complementation group C | Uncertain significance (Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr9:97861743
- GRCh38:
- Chr9:95099461
| AOPEP, FANCC | | Fanconi anemia complementation group C | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:97863893
- GRCh38:
- Chr9:95101611
| AOPEP, FANCC | | not provided, Fanconi anemia complementation group C | Conflicting interpretations of pathogenicity (Jun 18, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:97863776
- GRCh38:
- Chr9:95101494
| AOPEP, FANCC | | Fanconi anemia complementation group C | Likely benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:97863739
- GRCh38:
- Chr9:95101457
| FANCC, AOPEP | | Fanconi anemia complementation group C | Likely benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:97862610
- GRCh38:
- Chr9:95100328
| AOPEP, FANCC | | Fanconi anemia complementation group C | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:97862521
- GRCh38:
- Chr9:95100239
| FANCC, AOPEP | | Fanconi anemia complementation group C | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:97861681
- GRCh38:
- Chr9:95099399
| FANCC, AOPEP | | Fanconi anemia complementation group C | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:97861587
- GRCh38:
- Chr9:95099305
| FANCC, AOPEP | | Fanconi anemia complementation group C | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:97861465
- GRCh38:
- Chr9:95099183
| FANCC, AOPEP | | Fanconi anemia complementation group C | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:97861425
- GRCh38:
- Chr9:95099143
| FANCC, AOPEP | | Fanconi anemia complementation group C | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:97897771
- GRCh38:
- Chr9:95135489
| AOPEP, FANCC | L234V | Fanconi anemia, Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group C
| Uncertain significance (Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:97863722
- GRCh38:
- Chr9:95101440
| AOPEP, FANCC | | Fanconi anemia complementation group C | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:97863558
- GRCh38:
- Chr9:95101276
| AOPEP, FANCC | | Fanconi anemia complementation group C | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:97863513
- GRCh38:
- Chr9:95101231
| AOPEP, FANCC | | Fanconi anemia complementation group C | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:97863506
- GRCh38:
- Chr9:95101224
| FANCC, AOPEP | | Fanconi anemia complementation group C | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:97862474
- GRCh38:
- Chr9:95100192
| AOPEP, FANCC | | Fanconi anemia complementation group C | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:97862340
- GRCh38:
- Chr9:95100058
| FANCC, AOPEP | | Fanconi anemia complementation group C | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:97862327
- GRCh38:
- Chr9:95100045
| AOPEP, FANCC | | Fanconi anemia complementation group C | Benign (Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr9:97862314
- GRCh38:
- Chr9:95100032
| AOPEP, FANCC | | Fanconi anemia complementation group C | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:97862262
- GRCh38:
- Chr9:95099980
| AOPEP, FANCC | | Fanconi anemia complementation group C | Benign (Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr9:98009755
- GRCh38:
- Chr9:95247473
| FANCC | L70Q | Fanconi anemia, not provided, Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group C | Uncertain significance (Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:97869347
- GRCh38:
- Chr9:95107065
| FANCC, AOPEP | | Fanconi anemia, Fanconi anemia complementation group C, Hereditary cancer-predisposing syndrome
| Conflicting interpretations of pathogenicity (Oct 6, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:97912295
- GRCh38:
- Chr9:95150013
| AOPEP, FANCC | L199P | Fanconi anemia, Hereditary cancer-predisposing syndrome | Uncertain significance (Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |