| - GRCh37:
- Chr11:17553091
- GRCh38:
- Chr11:17531544
| USH1C | | Autosomal recessive nonsyndromic hearing loss 18A | Likely pathogenic
(Sep 13, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr11:17548832
- GRCh38:
- Chr11:17527285
| USH1C | C145Y | not specified, Autosomal recessive nonsyndromic hearing loss 18A | Uncertain significance
(Jul 18, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17547897
- GRCh38:
- Chr11:17526350
| USH1C | C224Y | Autosomal recessive nonsyndromic hearing loss 18A | Uncertain significance
(Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:17548879
- GRCh38:
- Chr11:17527332
| USH1C | | Autosomal recessive nonsyndromic hearing loss 18A | Likely pathogenic
(Feb 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:17554797
- GRCh38:
- Chr11:17533250
| USH1C | | Autosomal recessive nonsyndromic hearing loss 18A | Likely pathogenic
(Aug 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr11:17531123
- GRCh38:
- Chr11:17509576
| USH1C | R598H | not provided, Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 18A,
Usher syndrome type 1C | Uncertain significance
(Jan 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17523040
- GRCh38:
- Chr11:17501493
| USH1C | R438C, R457C, R757C | not provided, Usher syndrome, Usher syndrome type 1C,
Autosomal recessive nonsyndromic hearing loss 18A | Conflicting interpretations of pathogenicity
(Dec 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:17533397
- GRCh38:
- Chr11:17511850
| USH1C | | not provided, Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A
| Benign
(Jul 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17518180
- GRCh38:
- Chr11:17496633
| USH1C | | not provided, Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A
| Benign
(Jul 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17548507
- GRCh38:
- Chr11:17526960
| USH1C | | not provided, Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C
| Benign
(Jul 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17548239
- GRCh38:
- Chr11:17526692
| USH1C | | not provided, Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C
| Benign
(Jul 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17552990
- GRCh38:
- Chr11:17531443
| USH1C | | Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A, not provided
| Conflicting interpretations of pathogenicity
(Oct 29, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:17531006
- GRCh38:
- Chr11:17509459
| USH1C | T637S | Autosomal recessive nonsyndromic hearing loss 18A | Uncertain significance
(Jul 30, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr11:17542444
- GRCh38:
- Chr11:17520897
| USH1C | H376Y, H395Y | not provided, Usher syndrome type 1C, Usher syndrome type 1,
Autosomal recessive nonsyndromic hearing loss 18A | Uncertain significance
(Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17523039
- GRCh38:
- Chr11:17501492
| USH1C | R438H, R457H, R757H | Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1,
not provided | Uncertain significance
(Oct 27, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17522604
- GRCh38:
- Chr11:17501057
| USH1C | R473W, R492W, R792W | not provided, Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 18A,
Usher syndrome type 1C | Uncertain significance
(May 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17552727
- GRCh38:
- Chr11:17531180
| USH1C | G121S | Usher syndrome type 1C, Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 18A,
not provided | Uncertain significance
(Sep 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17522601
- GRCh38:
- Chr11:17501054
| USH1C | H793Y, H474Y, H493Y | Inborn genetic diseases, not specified, Usher syndrome type 1,
Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A, not provided
| Uncertain significance
(Feb 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17565914
- GRCh38:
- Chr11:17544367
| USH1C | | Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1,
Usher syndrome type 1C | Uncertain significance
(Apr 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17553059
- GRCh38:
- Chr11:17531512
| USH1C | | Usher syndrome type 1, Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A,
not provided | Likely benign
(Sep 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17565605
- GRCh38:
- Chr11:17544058
| USH1C | | not provided, Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C
| Benign
(Jul 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17545091
- GRCh38:
- Chr11:17523544
| USH1C | | not provided, Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A
| Benign
(Jul 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17523289
- GRCh38:
- Chr11:17501742
| USH1C | | not provided, Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A
| Benign
(Jul 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17533635
- GRCh38:
- Chr11:17512088
| USH1C | | not provided, Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A
| Benign
(Jul 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17542583
- GRCh38:
- Chr11:17521036
| USH1C | | not provided, Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C
| Benign
(Jul 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17542586
- GRCh38:
- Chr11:17521039
| USH1C | | not provided, Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C
| Benign
(Jul 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17542649
- GRCh38:
- Chr11:17521102
| USH1C | | not provided, Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C
| Benign
(Jul 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17554930
- GRCh38:
- Chr11:17533383
| USH1C | | not provided, Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C
| Benign
(Jul 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17566037
- GRCh38:
- Chr11:17544490
| USH1C | | not provided, Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A
| Benign
(Jul 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17516183
- GRCh38:
- Chr11:17494636
| USH1C | | not provided, Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C
| Benign
(Jul 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17522625-17522626
- GRCh38:
- Chr11:17501078-17501079
| USH1C | | Autosomal recessive nonsyndromic hearing loss 18A | Likely pathogenic
(Feb 26, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr11:17518361
- GRCh38:
- Chr11:17496814
| USH1C | | Autosomal recessive nonsyndromic hearing loss 18A | Pathogenic
(Feb 26, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr11:17548821
- GRCh38:
- Chr11:17527274
| USH1C | E149K | Autosomal recessive nonsyndromic hearing loss 18A | Likely pathogenic
(Jan 18, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr11:17533499
- GRCh38:
- Chr11:17511952
| USH1C | E455* | Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A | Uncertain significance
(May 24, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:17533447
- GRCh38:
- Chr11:17511900
| USH1C | | Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A | Uncertain significance
(May 2, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:17531045
- GRCh38:
- Chr11:17509498
| USH1C | S624* | Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A | Uncertain significance
(Apr 25, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:17544965
- GRCh38:
- Chr11:17523418
| USH1C | | Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A | Likely pathogenic
(Apr 24, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:17531092
- GRCh38:
- Chr11:17509545
| USH1C | P609fs | Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A | Uncertain significance
(Apr 24, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:17530906-17530910
- GRCh38:
- Chr11:17509359-17509363
| USH1C | T669fs | Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A | Uncertain significance
(Apr 24, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:17519708
- GRCh38:
- Chr11:17498161
| USH1C | | Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A, not provided
| Likely pathogenic
(Jul 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17519820
- GRCh38:
- Chr11:17498273
| USH1C | | Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A | Likely pathogenic
(Mar 19, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:17519712
- GRCh38:
- Chr11:17498165
| USH1C | | not provided, Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C,
Usher syndrome type 1C | Conflicting interpretations of pathogenicity
(Oct 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:17532069-17532070
- GRCh38:
- Chr11:17510522-17510523
| USH1C | | not provided, Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A
| Uncertain significance
(Jul 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17532066-17532067
- GRCh38:
- Chr11:17510519-17510520
| USH1C | | Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A | Uncertain significance
(Feb 27, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:17531110
- GRCh38:
- Chr11:17509563
| USH1C | I603fs | Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A | Uncertain significance
(Mar 6, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:17519707
- GRCh38:
- Chr11:17498160
| USH1C | | Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A | Likely pathogenic
(Feb 22, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:17531355-17531356
- GRCh38:
- Chr11:17509808-17509809
| USH1C | | Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A | Uncertain significance
(Feb 6, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:17531109-17531110
- GRCh38:
- Chr11:17509562-17509563
| USH1C | I603fs | Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A | Uncertain significance
(Jan 31, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:17537832
- GRCh38:
- Chr11:17516285
| USH1C | G406* | Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A | Uncertain significance
(Feb 4, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:17547896
- GRCh38:
- Chr11:17526349
| USH1C | C224* | not provided, Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A
| Pathogenic/Likely pathogenic
(Jul 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17533597
- GRCh38:
- Chr11:17512050
| USH1C | G422fs | Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A | Uncertain significance
(Jan 17, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:17531199-17531200
- GRCh38:
- Chr11:17509652-17509653
| USH1C | P573fs | Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A | Uncertain significance
(Jan 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:17531172-17531177
- GRCh38:
- Chr11:17509625-17509630
| USH1C | | Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A | Uncertain significance
(Jan 10, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:17554801
- GRCh38:
- Chr11:17533254
| USH1C | | not provided, Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A
| Likely pathogenic
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17533572
- GRCh38:
- Chr11:17512025
| USH1C | Y430* | not provided, Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A
| Conflicting interpretations of pathogenicity
(Sep 11, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:17547970
- GRCh38:
- Chr11:17526423
| USH1C | G200S | Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A | Uncertain significance
(Jan 2, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:17533500-17533505
- GRCh38:
- Chr11:17511953-17511958
| USH1C | | Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A | Uncertain significance
(Dec 21, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr11:17552945
- GRCh38:
- Chr11:17531398
| USH1C | | Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A, not provided
| Likely pathogenic
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17542480-17542481
- GRCh38:
- Chr11:17520933-17520934
| USH1C | Q364fs, Q383fs | not provided, Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A
| Pathogenic/Likely pathogenic
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17548886
- GRCh38:
- Chr11:17527339
| USH1C | | Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A | Uncertain significance
(Nov 28, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr11:17522651-17522652
- GRCh38:
- Chr11:17501104-17501105
| USH1C | I457fs, I776fs, I476fs | Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A, USH1C-related condition,
not provided | Pathogenic/Likely pathogenic
(Sep 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17515883-17515884
- GRCh38:
- Chr11:17494336-17494337
| USH1C | R899fs | Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A | Uncertain significance
(Nov 16, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr11:17539012
- GRCh38:
- Chr11:17517465
| USH1C | G388fs, G407fs | not provided, Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A
| Pathogenic
(Jun 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17519748-17519768
- GRCh38:
- Chr11:17498201-17498221
| USH1C | | not provided, Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A
| Uncertain significance
(Mar 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17519708
- GRCh38:
- Chr11:17498161
| USH1C | | Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A | Uncertain significance
(Nov 7, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr11:17547893
- GRCh38:
- Chr11:17526346
| USH1C | | Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A | Likely pathogenic
(Oct 16, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr11:17523529
- GRCh38:
- Chr11:17501982
| USH1C | | Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A | Likely pathogenic
(Oct 16, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr11:17530959-17530960
- GRCh38:
- Chr11:17509412-17509413
| USH1C | H652fs | Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A | Uncertain significance
(Oct 13, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr11:17515913-17515915
- GRCh38:
- Chr11:17494366-17494368
| USH1C | F552del, L889del, F533del | not provided, Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A
| Uncertain significance
(Aug 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17547892
- GRCh38:
- Chr11:17526345
| USH1C | | Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C, not provided
| Pathogenic/Likely pathogenic
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17565854
- GRCh38:
- Chr11:17544307
| USH1C | M1V | Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A | Likely pathogenic
(Sep 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr11:17532068
- GRCh38:
- Chr11:17510521
| USH1C | | Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C | Uncertain significance
(Sep 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr11:17523027
- GRCh38:
- Chr11:17501480
| USH1C | | Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C | Likely pathogenic
(Sep 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr11:17552777
- GRCh38:
- Chr11:17531230
| USH1C | G104D | not provided, Usher syndrome type 1, Usher syndrome type 1C,
Autosomal recessive nonsyndromic hearing loss 18A | Conflicting interpretations of pathogenicity
(Mar 10, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:17531356-17531357
- GRCh38:
- Chr11:17509809-17509810
| USH1C | S521fs | not provided, Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A
| Uncertain significance
(Jul 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17552822
- GRCh38:
- Chr11:17531275
| USH1C | R89H | not specified, not provided, Usher syndrome type 1C,
Autosomal recessive nonsyndromic hearing loss 18A | Uncertain significance
(Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17544474
- GRCh38:
- Chr11:17522927
| USH1C | | Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C | Likely pathogenic
(Sep 6, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr11:17542488
- GRCh38:
- Chr11:17520941
| USH1C | | not provided, Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A
| Pathogenic/Likely pathogenic
(Aug 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17527421
- GRCh38:
- Chr11:17505874
| USH1C | E697* | Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A | Uncertain significance
(Sep 12, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr11:17545026
- GRCh38:
- Chr11:17523479
| USH1C | | Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C | Likely pathogenic
(Aug 31, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr11:17531108-17531109
- GRCh38:
- Chr11:17509561-17509562
| USH1C | I603fs | Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A | Uncertain significance
(Aug 29, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr11:17547893
- GRCh38:
- Chr11:17526346
| USH1C | | Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C, not provided
| Pathogenic/Likely pathogenic
(Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17518322-17518323
- GRCh38:
- Chr11:17496775-17496776
| USH1C | E844fs, E525fs, E544fs | Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A | Uncertain significance
(Aug 18, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr11:17544430-17544435
- GRCh38:
- Chr11:17522883-17522888
| USH1C | | not provided, Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A
| Uncertain significance
(Jun 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17522699
- GRCh38:
- Chr11:17501152
| USH1C | | Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C | Likely pathogenic
(Aug 3, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr11:17544992
- GRCh38:
- Chr11:17523445
| USH1C | D265N | Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1, Usher syndrome type 1C,
Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C | Uncertain significance
(Dec 17, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17515924
- GRCh38:
- Chr11:17494377
| USH1C | | Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C | Uncertain significance
(Jul 31, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr11:17531076
- GRCh38:
- Chr11:17509529
| USH1C | Q614fs | Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A | Likely benign
(Jul 5, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr11:17522698
- GRCh38:
- Chr11:17501151
| USH1C | | Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C | Likely pathogenic
(Jul 5, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr11:17515898
- GRCh38:
- Chr11:17494351
| USH1C | G894fs | Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A | Uncertain significance
(Jun 22, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr11:17548769
- GRCh38:
- Chr11:17527222
| USH1C | | Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A,
Usher syndrome type 1, Usher syndrome type 1C, not provided
| Pathogenic
(Aug 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17542960
- GRCh38:
- Chr11:17521413
| USH1C | | not provided, Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C
| Likely pathogenic
(Oct 19, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17548299
- GRCh38:
- Chr11:17526752
| USH1C | | not provided, Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C
| Pathogenic/Likely pathogenic
(Feb 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17523083
- GRCh38:
- Chr11:17501536
| USH1C | | Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1, Usher syndrome type 1C,
not provided, Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C
| Pathogenic/Likely pathogenic
(Sep 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17531256-17531262
- GRCh38:
- Chr11:17509709-17509715
| USH1C | Y552fs | Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A | Uncertain significance
(Mar 29, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr11:17544334
- GRCh38:
- Chr11:17522787
| USH1C | R339Q, R320Q | Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A, not provided
| Uncertain significance
(Aug 31, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17517225
- GRCh38:
- Chr11:17495678
| USH1C | | not provided, Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C
| Likely benign
(Dec 7, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17531360
- GRCh38:
- Chr11:17509813
| USH1C | P519L | not provided, Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A
| Conflicting interpretations of pathogenicity
(Mar 12, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:17531076
- GRCh38:
- Chr11:17509529
| USH1C | Q614* | Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A | Likely benign
(Jan 19, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr11:17533570
- GRCh38:
- Chr11:17512023
| USH1C | G431V | not provided, Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A
| Conflicting interpretations of pathogenicity
(Mar 26, 2022) | criteria provided, conflicting interpretations |