| - GRCh37:
- Chr11:76892497-76892510
- GRCh38:
- Chr11:77181451-77181464
| MYO7A | K912fs, K923fs | Usher syndrome type 1 | Pathogenic
(Apr 19, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76893467
- GRCh38:
- Chr11:77182422
| MYO7A | | not provided, Usher syndrome type 1 | Likely pathogenic
(Mar 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:76901775
- Chr11:76913387
- GRCh38:
- Chr11:77190730
- Chr11:77202342
| MYO7A, MYO7A | V1262M, V1251M, R1647W, R1658W, R1696W | Usher syndrome type 1 | Uncertain significance
(Nov 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76867704
- GRCh38:
- Chr11:77156658
| MYO7A | | Usher syndrome type 1 | Likely pathogenic
(Dec 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76892474
- GRCh38:
- Chr11:77181428
| MYO7A | E904*, E915* | Usher syndrome type 1 | Likely pathogenic
(Jan 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76873170
- GRCh38:
- Chr11:77162124
| MYO7A | E439*, E450* | Usher syndrome type 1 | Likely pathogenic
(Feb 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76885955
- GRCh38:
- Chr11:77174909
| MYO7A | K686*, K697* | Usher syndrome type 1 | Likely pathogenic
(Jan 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76890095-76890096
- GRCh38:
- Chr11:77179049-77179050
| MYO7A | N752fs, N763fs | Usher syndrome type 1 | Likely pathogenic
(Jan 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76914115
- GRCh38:
- Chr11:77203070
| MYO7A | K1678*, K1689*, K1727* | Usher syndrome type 1 | Likely pathogenic
(Dec 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76885840
- GRCh38:
- Chr11:77174794
| MYO7A | Y647*, Y658* | Usher syndrome type 1 | Likely pathogenic
(Dec 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76873356
- GRCh38:
- Chr11:77162310
| MYO7A | E501*, E512* | Usher syndrome type 1 | Likely pathogenic
(Dec 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76892433-76892434
- GRCh38:
- Chr11:77181387-77181388
| MYO7A | A891fs, A902fs | Usher syndrome type 1 | Likely pathogenic
(Dec 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76886460-76886461
- GRCh38:
- Chr11:77175414-77175415
| MYO7A | L702fs, L713fs | Usher syndrome type 1 | Likely pathogenic
(Dec 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76873986
- GRCh38:
- Chr11:77162940
| MYO7A | Q537*, Q548* | Usher syndrome type 1 | Likely pathogenic
(May 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76867916
- GRCh38:
- Chr11:77156870
| MYO7A | N190fs, N201fs | Usher syndrome type 1 | Likely pathogenic
(May 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76890838
- GRCh38:
- Chr11:77179792
| MYO7A | Q798*, Q809* | Usher syndrome type 1 | Likely pathogenic
(May 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76883926-76883927
- GRCh38:
- Chr11:77172880-77172881
| MYO7A | P633fs, P644fs | Usher syndrome type 1 | Likely pathogenic
(Apr 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76923997
- GRCh38:
- Chr11:77212952
| MYO7A | Q2070*, Q2079*, Q2119* | Usher syndrome type 1 | Likely pathogenic
(Dec 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76873927-76873928
- GRCh38:
- Chr11:77162881-77162882
| MYO7A | L517fs, L528fs | Usher syndrome type 1 | Likely pathogenic
(Apr 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76888659
- GRCh38:
- Chr11:77177613
| MYO7A | Q741fs, Q752fs | Usher syndrome type 1 | Likely pathogenic
(Apr 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76885943-76885944
- GRCh38:
- Chr11:77174897-77174898
| MYO7A | K682fs, K693fs | Usher syndrome type 1 | Likely pathogenic
(Apr 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76858985-76858986
- GRCh38:
- Chr11:77147939-77147940
| MYO7A | I83fs, I94fs | Usher syndrome type 1 | Likely pathogenic
(Apr 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76867783
- GRCh38:
- Chr11:77156737
| MYO7A | S172*, S183* | Usher syndrome type 1 | Likely pathogenic
(Mar 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76914211
- GRCh38:
- Chr11:77203166
| MYO7A | K1710*, K1721*, K1759* | Usher syndrome type 1 | Likely pathogenic
(Mar 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76924045
- GRCh38:
- Chr11:77213000
| MYO7A | K2086*, K2095*, K2135* | Usher syndrome type 1 | Likely pathogenic
(Mar 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76892570-76892571
- GRCh38:
- Chr11:77181524-77181525
| MYO7A | F936fs, F947fs | Usher syndrome type 1 | Likely pathogenic
(Mar 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76892509
- GRCh38:
- Chr11:77181463
| MYO7A | E916fs, E927fs | Usher syndrome type 1 | Likely pathogenic
(Mar 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76886438
- GRCh38:
- Chr11:77175392
| MYO7A | Q695fs, Q706fs | Usher syndrome type 1 | Likely pathogenic
(Mar 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76908565
- GRCh38:
- Chr11:77197520
| MYO7A | K1444*, K1455* | Usher syndrome type 1 | Likely pathogenic
(Mar 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76890854
- GRCh38:
- Chr11:77179808
| MYO7A | R803fs, R814fs | Usher syndrome type 1 | Likely pathogenic
(Mar 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76890988-76890989
- GRCh38:
- Chr11:77179942-77179943
| MYO7A | L848fs, L859fs | Usher syndrome type 1 | Likely pathogenic
(Feb 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76901770
- GRCh38:
- Chr11:77190725
| MYO7A | L1249*, L1260* | Usher syndrome type 1 | Likely pathogenic
(Feb 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76868356
- GRCh38:
- Chr11:77157310
| MYO7A | Y245fs, Y256fs | Usher syndrome type 1 | Likely pathogenic
(Feb 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76893090
- GRCh38:
- Chr11:77182044
| MYO7A | K1000*, K989* | Usher syndrome type 1 | Likely pathogenic
(Feb 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76872055
- GRCh38:
- Chr11:77161009
| MYO7A | K402*, K413* | Usher syndrome type 1 | Likely pathogenic
(Feb 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76853818-76853819
- GRCh38:
- Chr11:77142772-77142773
| MYO7A | V17fs, V28fs | Usher syndrome type 1 | Likely pathogenic
(Feb 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76868391
- GRCh38:
- Chr11:77157345
| MYO7A | K257*, K268* | Usher syndrome type 1 | Likely pathogenic
(Jan 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76891481
- GRCh38:
- Chr11:77180435
| MYO7A | E872fs, E883fs | Usher syndrome type 1 | Likely pathogenic
(Jan 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:73544043
- GRCh38:
- Chr10:71784286
| CDH23 | | Usher syndrome type 1, Usher syndrome type 1D | Likely pathogenic
(Jul 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:73468969
- GRCh38:
- Chr10:71709212
| CDH23 | | Usher syndrome type 1, Usher syndrome type 1D | Likely pathogenic
(Jul 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76883800
- GRCh38:
- Chr11:77172754
| MYO7A | E591fs, E602fs | Usher syndrome type 1 | Likely pathogenic
(May 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76922865
- GRCh38:
- Chr11:77211820
| MYO7A | | Usher syndrome type 1 | Likely pathogenic
(May 13, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr11:76905453
- GRCh38:
- Chr11:77194408
| MYO7A | E1392*, E1403* | Usher syndrome type 1 | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr11:76914188
- GRCh38:
- Chr11:77203143
| MYO7A | P1702L, P1713L, P1751L | not provided, Autosomal dominant nonsyndromic hearing loss 11, Usher syndrome type 1,
Autosomal recessive nonsyndromic hearing loss 2 | Uncertain significance
(Nov 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:76868385
- GRCh38:
- Chr11:77157339
| MYO7A | Q255*, Q266* | not provided, Usher syndrome type 1 | Pathogenic/Likely pathogenic
(Feb 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:76916548
- GRCh38:
- Chr11:77205503
| MYO7A | T1792M, T1803M, T1841M | not provided, Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11,
Autosomal recessive nonsyndromic hearing loss 2, not specified | Uncertain significance
(Apr 27, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:76867804
- GRCh38:
- Chr11:77156758
| MYO7A | L190W, L179W | not provided, Autosomal dominant nonsyndromic hearing loss 11, Autosomal recessive nonsyndromic hearing loss 2,
Usher syndrome type 1 | Uncertain significance
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:76922373-76922374
- GRCh38:
- Chr11:77211328-77211329
| MYO7A | W2028fs, W2039fs, W2077fs | Usher syndrome type 1 | Pathogenic
(Aug 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76924017
- GRCh38:
- Chr11:77212972
| MYO7A | P2077fs, P2086fs, P2126fs | not provided, Usher syndrome type 1 | Pathogenic
(Nov 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:76910865
- GRCh38:
- Chr11:77199820
| MYO7A | | Usher syndrome type 1 | Likely pathogenic
(Jan 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76919841
- GRCh38:
- Chr11:77208796
| MYO7A | Y1966C, Y1977C, Y2015C | Usher syndrome type 1 | Uncertain significance
(Jan 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76891516
- GRCh38:
- Chr11:77180470
| MYO7A | R884C, R895C | not provided, Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2
| Conflicting interpretations of pathogenicity
(Aug 9, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:76895855
- GRCh38:
- Chr11:77184810
| MYO7A | | Usher syndrome type 1 | Uncertain significance
(Nov 3, 2021) | 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:
- Chr11:76893605
- GRCh38:
- Chr11:77182560
| MYO7A | T1071M, T1082M | Usher syndrome type 1, not provided | Uncertain significance
(Feb 28, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:76918340
- GRCh38:
- Chr11:77207295
| MYO7A | E1868K, E1879K, E1917K | not provided, Autosomal dominant nonsyndromic hearing loss 11, Autosomal recessive nonsyndromic hearing loss 2,
Usher syndrome type 1 | Uncertain significance
(Apr 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:73468927
- GRCh38:
- Chr10:71709170
| CDH23 | R1060Q | not provided | Uncertain significance
(Feb 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:73491848
- GRCh38:
- Chr10:71732091
| C10orf105, CDH23 | E1274K | not provided | Uncertain significance
(Sep 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:73437188
- GRCh38:
- Chr10:71677431
| CDH23 | | not provided | Likely benign
(Jul 1, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76892528
- GRCh38:
- Chr11:77181482
| MYO7A | R922C, R933C | Autosomal recessive nonsyndromic hearing loss 2, not provided, Usher syndrome type 1
| Uncertain significance
(Apr 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:76924930
- GRCh38:
- Chr11:77213885
| MYO7A | T2106I, T2115I, T2155I | Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2 | Uncertain significance
(Jul 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76901092
- GRCh38:
- Chr11:77190047
| MYO7A | P1209A, P1220A | Autosomal recessive nonsyndromic hearing loss 2, Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1,
Autosomal dominant nonsyndromic hearing loss 11 | Uncertain significance
(Jul 22, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:76868432
- GRCh38:
- Chr11:77157386
| MYO7A | | not provided, Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1,
Autosomal dominant nonsyndromic hearing loss 11 | Conflicting interpretations of pathogenicity
(Aug 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:76858896
- GRCh38:
- Chr11:77147850
| MYO7A | T51M, T62M | Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11, Autosomal recessive nonsyndromic hearing loss 2
| Uncertain significance
(Jul 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76901098
- GRCh38:
- Chr11:77190053
| MYO7A | G1211S, G1222S | Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2, Autosomal dominant nonsyndromic hearing loss 11,
not provided | Uncertain significance
(Oct 19, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:76874013
- GRCh38:
- Chr11:77162967
| MYO7A | I546V, I557V | Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11, Autosomal recessive nonsyndromic hearing loss 2
| Uncertain significance
(Jul 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76890815
- GRCh38:
- Chr11:77179769
| MYO7A | H790P, H801P | Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1,
Autosomal dominant nonsyndromic hearing loss 11, Autosomal recessive nonsyndromic hearing loss 2, Autosomal dominant nonsyndromic hearing loss 11
| Uncertain significance
(Oct 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:76901816
- GRCh38:
- Chr11:77190771
| MYO7A | | not provided, Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1,
Autosomal dominant nonsyndromic hearing loss 11 | Conflicting interpretations of pathogenicity
(Aug 6, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:73567390
- GRCh38:
- Chr10:71807633
| CDH23 | R2809H, R569H | not provided, Inborn genetic diseases | Uncertain significance
(Jun 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:73550925
- GRCh38:
- Chr10:71791168
| CDH23 | R2029Q | not provided | Uncertain significance
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:76874023
- GRCh38:
- Chr11:77162977
| MYO7A | Y549C, Y560C | Usher syndrome type 1 | Likely pathogenic
(Jul 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76912612
- GRCh38:
- Chr11:77201567
| MYO7A | Q1609*, Q1620*, Q1658* | not provided, Usher syndrome type 1 | Pathogenic/Likely pathogenic
(Jun 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:76908838
- GRCh38:
- Chr11:77197793
| MYO7A | | Autosomal dominant nonsyndromic hearing loss 11, Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2
| Benign
(Jul 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76908791
- GRCh38:
- Chr11:77197746
| MYO7A | | Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11, Autosomal recessive nonsyndromic hearing loss 2
| Benign
(Jul 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76908732
- GRCh38:
- Chr11:77197687
| MYO7A | | Autosomal dominant nonsyndromic hearing loss 11, Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2
| Benign/Likely benign
(Jul 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76858756
- GRCh38:
- Chr11:77147710
| MYO7A | | Autosomal dominant nonsyndromic hearing loss 11, Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2,
not provided | Benign
(Jul 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:76923017
- GRCh38:
- Chr11:77211972
| MYO7A | | Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2, Autosomal dominant nonsyndromic hearing loss 11,
not provided | Benign/Likely benign
(Jul 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:76892835
- GRCh38:
- Chr11:77181789
| MYO7A | | Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2, Autosomal dominant nonsyndromic hearing loss 11,
not provided | Benign
(Jul 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:76922216
- GRCh38:
- Chr11:77211171
| MYO7A | R1975P, R1986P, R2024P | not provided, Usher syndrome type 1 | Conflicting interpretations of pathogenicity
(Aug 28, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:76868356
- GRCh38:
- Chr11:77157310
| MYO7A | Y245C, Y256C | Usher syndrome type 1 | Likely pathogenic
(May 25, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76890071
- GRCh38:
- Chr11:77179025
| MYO7A | | not provided, Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1,
Autosomal dominant nonsyndromic hearing loss 11 | Benign/Likely benign
(Sep 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:73406335
- GRCh38:
- Chr10:71646578
| CDH23 | | not provided | Benign
(Sep 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76901067
- GRCh38:
- Chr11:77190022
| MYO7A | | Usher syndrome type 1, not provided, Autosomal recessive nonsyndromic hearing loss 2,
Autosomal dominant nonsyndromic hearing loss 11 | Conflicting interpretations of pathogenicity
(Oct 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:73559269
- GRCh38:
- Chr10:71799512
| CDH23 | | not provided | Likely benign
(Aug 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:73447425
- GRCh38:
- Chr10:71687668
| CDH23 | T670S | not specified, not provided | Uncertain significance
(Mar 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:76910745
- GRCh38:
- Chr11:77199700
| MYO7A | | Autosomal recessive nonsyndromic hearing loss 2, Autosomal dominant nonsyndromic hearing loss 11, Usher syndrome type 1,
not provided | Conflicting interpretations of pathogenicity
(Sep 22, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:73500626
- GRCh38:
- Chr10:71740869
| CDH23 | | not provided | Likely benign
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:73494099
- GRCh38:
- Chr10:71734342
| C10orf105, CDH23 | | not provided | Likely pathogenic
(Jun 9, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr10:73565755
- GRCh38:
- Chr10:71805998
| CDH23, LOC111982869 | | not provided, Usher syndrome | Likely pathogenic
(Dec 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:76903129
- GRCh38:
- Chr11:77192084
| MYO7A | M1309V, M1320V | Hearing impairment, Autosomal recessive nonsyndromic hearing loss 2, Autosomal dominant nonsyndromic hearing loss 11,
Usher syndrome type 1 | Uncertain significance
(Jul 23, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:73405688
- GRCh38:
- Chr10:71645931
| CDH23 | R414Q | not provided | Uncertain significance
(Dec 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:73574835
- GRCh38:
- Chr10:71815078
| CDH23 | T1014A, T1049A, T151A, T186A, T3289A | not provided | Uncertain significance
(Aug 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:73485221
- GRCh38:
- Chr10:71725464
| C10orf105, CDH23 | V1175M | not provided | Uncertain significance
(Feb 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:73501572
- GRCh38:
- Chr10:71741815
| CDH23 | R1580H | not provided | Uncertain significance
(Apr 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:73450251
- GRCh38:
- Chr10:71690494
| CDH23 | T696A | not provided | Uncertain significance
(Mar 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:73550110
- GRCh38:
- Chr10:71790353
| CDH23 | V1997M | Stickler syndrome, not provided | Uncertain significance
(Jun 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:73571483
- GRCh38:
- Chr10:71811726
| CDH23 | L3098F, L858F | not provided | Uncertain significance
(Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:73550978
- GRCh38:
- Chr10:71791221
| CDH23 | G2047R | not provided | Uncertain significance
(Sep 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:73572540
- GRCh38:
- Chr10:71812783
| CDH23 | E3176K, E73K, E936K | not provided, Inborn genetic diseases | Uncertain significance
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:73455253
- GRCh38:
- Chr10:71695496
| CDH23 | M790V | not provided | Likely benign
(Sep 13, 2022) | criteria provided, single submitter |