Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_206933.4(USH2A):c.779T>G (p.Leu260Ter)	SNV Germline	Chr1:216364958	Pathogenic	Usher syndrome type 2A	No Assertion Criteria Provided	CA252229	rs_121912598	1 SubmittersRCV000002448
NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr)	SNV Germline	Chr1:216325492	Pathogenic	Usher syndrome type 2A Condition: not provided Usher syndrome Retinal dystrophy Rare genetic deafness Retinitis pigmentosa 39 Usher syndrome type 2A Retinitis pigmentosa 39	Reviewed By Expert Panel	CA252231	rs_121912599	12 SubmittersRCV000002449 RCV000303941 RCV001004780 RCV001074393 RCV000824798 RCV003460406 RCV005007808
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)	SNV Germline	Chr1:216247118	Pathogenic	Retinitis pigmentosa 39 Retinitis pigmentosa Usher syndrome type 2A Condition: not provided Retinal dystrophy Usher syndrome USH2A-related disorder Inborn genetic diseases Autosomal recessive retinitis pigmentosa Retinitis pigmentosa 39 Usher syndrome type 2A Ear malformation See cases	Reviewed By Expert Panel	CA252233	rs_80338902	48 SubmittersRCV000002450 RCV000032523 RCV000174625 RCV000239000 RCV000504814 RCV000505146 RCV000404009 RCV000623925 RCV001257905 RCV001535506 RCV001813938 RCV002251859
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)	SNV Germline	Chr1:215728232	Pathogenic	Usher syndrome type 2A Retinitis pigmentosa 39 Congenital sensorineural hearing impairment Hearing impairment Condition: not provided Retinitis pigmentosa Rare genetic deafness Usher syndrome Usher syndrome type 2 Retinal dystrophy USH2A-related disorder Retinitis pigmentosa 39 Usher syndrome type 2A Usher syndrome type 3A Usher syndrome See cases	Criteria Provided Multiple Submitters No Conflicts	CA252235	rs_111033364	35 SubmittersRCV000002451 RCV000412373 RCV000415089 RCV000414867 RCV000414231 RCV000504922 RCV000824781 RCV001003260 RCV001074873 RCV001813732 RCV002476913 RCV003314546 RCV003114173 RCV004584307
NM_206933.4(USH2A):c.949C>A (p.Arg317=)	SNV Germline	Chr1:216325499	Pathogenic	Usher syndrome type 2A Condition: not provided Pigmentary retinopathy Abnormal macular morphology Retinal pigment epithelial atrophy Rod-cone dystrophy Blindness Retinitis pigmentosa 39 Usher syndrome type 2A Retinitis pigmentosa 39 Rare genetic deafness Retinal dystrophy Usher syndrome type 2	Criteria Provided Multiple Submitters No Conflicts	CA252237	rs_111033272	20 SubmittersRCV000002452 RCV000412796 RCV000627017 RCV000763297 RCV000984234 RCV000824799 RCV001075725 RCV001199595
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe)	SNV Germline	Chr1:216324240	Pathogenic	Usher syndrome type 2A Condition: not provided Usher syndrome USH2A-related disorder Rare genetic deafness Retinitis pigmentosa 39 Retinal dystrophy Retinitis pigmentosa 39 Usher syndrome type 2A	Criteria Provided Multiple Submitters No Conflicts	CA252239	rs_121912600	23 SubmittersRCV000002453 RCV000224697 RCV000504809 RCV000778222 RCV000824795 RCV000984315 RCV001074823 RCV002482817
NM_206933.4(USH2A):c.2209C>T (p.Arg737Ter)	SNV Germline	Chr1:216247185	Pathogenic	Usher syndrome type 2A Retinitis pigmentosa 39 Condition: not provided Usher syndrome type 2 Rare genetic deafness	Criteria Provided Multiple Submitters No Conflicts	CA252242	rs_111033334	12 SubmittersRCV000002456 RCV000002457 RCV000725261 RCV001003279 RCV000824794
NM_015404.4(WHRN):c.2332C>T (p.Arg778Ter)	SNV Germline	Chr9:114403982	Pathogenic	Autosomal recessive nonsyndromic hearing loss 31 Condition: not provided Usher syndrome Usher syndrome type 2D Autosomal recessive nonsyndromic hearing loss 31	Criteria Provided Multiple Submitters No Conflicts	CA252404	rs_137852839	4 SubmittersRCV000002808 RCV001851590 RCV003226155 RCV005411277
NM_015404.4(WHRN):c.307C>T (p.Gln103Ter)	SNV Germline	Chr9:114504495	Pathogenic	Usher syndrome type 2D	No Assertion Criteria Provided	CA277914	rs_137852840	1 SubmittersRCV000002809
NM_015404.4(WHRN):c.837+1G>A	SNV Germline	Chr9:114478552	Pathogenic	Usher syndrome type 2D	No Assertion Criteria Provided	CA374621700	rs_2133130286	1 SubmittersRCV000002810
NM_173477.5(USH1G):c.143T>C (p.Leu48Pro)	SNV Germline	Chr17:74922931	Pathogenic	Usher syndrome type 1G	No Assertion Criteria Provided	CA252487	rs_104894651	1 SubmittersRCV000003048
NM_173477.5(USH1G):c.113G>A (p.Trp38Ter)	SNV Germline	Chr17:74922961	Pathogenic	Usher syndrome type 1G Condition: not provided	Criteria Provided Single Submitter	CA252490	rs_104894652	2 SubmittersRCV000003052 RCV001851599
NM_052995.2(CLRN1):c.300T>G (p.Tyr100Ter)	SNV Germline	Chr3:150928107	Pathogenic/Likely pathogenic	Usher syndrome type 3 Condition: not provided Hearing impairment Retinitis pigmentosa Retinitis pigmentosa 61 Retinitis pigmentosa 61 Usher syndrome type 3A Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA000001	rs_121908140	14 SubmittersRCV000004642 RCV000724158 RCV001375084 RCV002247246 RCV003466811 RCV002496258
NM_174878.3(CLRN1):c.359T>A (p.Met120Lys)	SNV Germline	Chr3:150941656	Likely pathogenic	Usher syndrome type 3 Condition: not provided	Criteria Provided Single Submitter	CA116819	rs_121908141	2 SubmittersRCV000004643 RCV001851649
NM_174878.3(CLRN1):c.449T>C (p.Leu150Pro)	SNV Germline	Chr3:150928186	Likely pathogenic	Usher syndrome type 3 Retinitis pigmentosa 61	Criteria Provided Single Submitter	CA116829	rs_121908142	2 SubmittersRCV000004646 RCV003466813
NM_174878.3(CLRN1):c.189C>A (p.Tyr63Ter)	SNV Germline	Chr3:150972520	Pathogenic	Usher syndrome type 3 Retinitis pigmentosa Rare genetic deafness CLRN1-related disorder Usher syndrome type 3A Condition: not provided Retinitis pigmentosa 61 Retinitis pigmentosa 61 Usher syndrome type 3A	Criteria Provided Multiple Submitters No Conflicts	CA116834	rs_111033267	12 SubmittersRCV000004647 RCV000505037 RCV000844690 RCV003407275 RCV001376502 RCV001384937 RCV003466814 RCV005031388
NM_174878.3(CLRN1):c.118T>G (p.Cys40Gly)	SNV Germline	Chr3:150972591	Conflicting classifications of pathogenicity	Usher syndrome type 3 Condition: not provided Usher syndrome type 3A Usher syndrome CLRN1-related disorder Retinal dystrophy Retinitis pigmentosa 61 Retinitis pigmentosa 61 Usher syndrome type 3A	Criteria Provided Conflicting Classifications	CA116839	rs_121908143	14 SubmittersRCV000004649 RCV000414238 RCV001273484 RCV002468960 RCV004754242 RCV001075346 RCV003466815 RCV005031389
NM_022124.6(CDH23):c.4488G>C (p.Gln1496His)	SNV Germline	Chr10:71739772	Pathogenic	Usher syndrome type 1D Condition: not provided Usher syndrome type 1 Pituitary adenoma 5, multiple types	Criteria Provided Multiple Submitters No Conflicts	CA253319	rs_121908347	6 SubmittersRCV000005197 RCV001566890 RCV001835621 RCV003472971
NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln)	SNV Germline	Chr10:71779316	Pathogenic	Usher syndrome type 1D Condition: not provided Retinal dystrophy Usher syndrome type 1 Childhood onset hearing loss Rare genetic deafness Usher syndrome type 1D Autosomal recessive nonsyndromic hearing loss 12 Pituitary adenoma 5, multiple types Usher syndrome Autosomal recessive nonsyndromic hearing loss 12 Inborn genetic diseases Pituitary adenoma 5, multiple types CDH23-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA253321	rs_111033270	18 SubmittersRCV000005198 RCV000254732 RCV001073594 RCV001274889 RCV001328020 RCV000844622 RCV000763215 RCV002222340 RCV002272010 RCV002512799 RCV003472972 RCV004528082
NM_022124.6(CDH23):c.7362+5G>A	SNV Germline	Chr10:71799634	Pathogenic	Usher syndrome type 1D Rare genetic deafness Condition: not provided Pituitary adenoma 5, multiple types	Criteria Provided Multiple Submitters No Conflicts	CA253325	rs_727502931	5 SubmittersRCV000005200 RCV000844693 RCV001851662 RCV003472973
NM_022124.6(CDH23):c.6604G>A (p.Asp2202Asn)	SNV Germline	Chr10:71793532	Pathogenic/Likely pathogenic	Autosomal recessive nonsyndromic hearing loss 12 Condition: not provided Pituitary adenoma 5, multiple types Hearing loss, autosomal recessive Pituitary adenoma 5, multiple types Usher syndrome type 1D Autosomal recessive nonsyndromic hearing loss 12 Usher syndrome type 1 Usher syndrome	Criteria Provided Multiple Submitters No Conflicts	CA253328	rs_121908349	7 SubmittersRCV000005202 RCV000818407 RCV003472975 RCV001291219 RCV005041985 RCV001831514 RCV003387716
NM_022124.6(CDH23):c.3880C>T (p.Gln1294Ter)	SNV Germline	Chr10:71732151	Pathogenic	Usher syndrome type 1D Hearing loss, autosomal recessive Condition: not provided	Criteria Provided Single Submitter	CA253330	rs_121908350	3 SubmittersRCV000005203 RCV001291211 RCV001386699
NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn)	SNV Germline	Chr10:71793370	Pathogenic/Likely pathogenic	Autosomal recessive nonsyndromic hearing loss 12 Rare genetic deafness Usher syndrome type 2A Autosomal recessive nonsyndromic hearing loss 12 Condition: not provided Usher syndrome type 1 Usher syndrome Pituitary adenoma 5, multiple types CDH23-related disorder Retinal dystrophy Usher syndrome type 1D Usher syndrome type 1D Pituitary adenoma 5, multiple types Autosomal recessive nonsyndromic hearing loss 12	Criteria Provided Multiple Submitters No Conflicts	CA253332	rs_111033271	15 SubmittersRCV000005204 RCV000599622 RCV000710063 RCV000809058 RCV001826421 RCV003987312 RCV003472976 RCV004757097 RCV004814828 RCV004783719 RCV005041986
NM_022124.6(CDH23):c.4021G>A (p.Asp1341Asn)	SNV Germline	Chr10:71732292	Pathogenic/Likely pathogenic	Autosomal recessive nonsyndromic hearing loss 12 Condition: not provided Usher syndrome type 1 Pituitary adenoma 5, multiple types Usher syndrome Usher syndrome type 1D	Criteria Provided Multiple Submitters No Conflicts	CA253334	rs_121908351	9 SubmittersRCV000005205 RCV000436619 RCV001272891 RCV003472977 RCV003492284 RCV005229765
NM_022124.6(CDH23):c.5663T>C (p.Phe1888Ser)	SNV Germline	Chr10:71785051	Pathogenic	Autosomal recessive nonsyndromic hearing loss 12 Condition: not provided Usher syndrome	Criteria Provided Multiple Submitters No Conflicts	CA253336	rs_121908352	3 SubmittersRCV000005206 RCV001851663 RCV005430917
NM_022124.6(CDH23):c.719C>T (p.Pro240Leu)	SNV Germline	Chr10:71570884	Pathogenic	Autosomal recessive nonsyndromic hearing loss 12 Usher syndrome type 1D Condition: not provided Usher syndrome type 1 Nonsyndromic genetic hearing loss Pituitary adenoma 5, multiple types Usher syndrome type 1D Autosomal recessive nonsyndromic hearing loss 12 Pituitary adenoma 5, multiple types	Reviewed By Expert Panel	CA253338	rs_121908354	10 SubmittersRCV000005211 RCV001106128 RCV001205177 RCV001831515 RCV001261012 RCV002476931 RCV003472978
NM_001384140.1(PCDH15):c.3718-2A>G	SNV Germline	Chr10:53857265	Pathogenic	Usher syndrome type 1F	Criteria Provided Single Submitter	CA16044084	rs_1307471318	2 SubmittersRCV000005215
NM_001384140.1(PCDH15):c.7C>T (p.Arg3Ter)	SNV Germline	Chr10:54664256	Pathogenic	Usher syndrome type 1F Autosomal recessive nonsyndromic hearing loss 23 Condition: not provided Rare genetic deafness Usher syndrome type 1F Autosomal recessive nonsyndromic hearing loss 23 Usher syndrome type 1D	Criteria Provided Multiple Submitters No Conflicts	CA253340	rs_137853001	14 SubmittersRCV000005216 RCV000770851 RCV000808283 RCV000824737 RCV005041988
NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter)	SNV Germline	Chr10:54317414	Pathogenic	Usher syndrome type 1F Usher syndrome type 1G Usher syndrome type 1 Condition: not provided Usher syndrome type 1D Usher syndrome type 1F Autosomal recessive nonsyndromic hearing loss 23 Rare genetic deafness Autosomal recessive nonsyndromic hearing loss 23 Usher syndrome type 1D PCDH15-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA253343	rs_111033260	22 SubmittersRCV000005218 RCV000055970 RCV000218809 RCV000269122 RCV000477806 RCV000824735 RCV001004803 RCV001030749 RCV004734497
NM_001384140.1(PCDH15):c.400C>G (p.Arg134Gly)	SNV Germline	Chr10:54369194	Pathogenic/Likely pathogenic	Autosomal recessive nonsyndromic hearing loss 23 Rare genetic deafness Usher syndrome type 1F	Criteria Provided Multiple Submitters No Conflicts	CA253346	rs_137853003	4 SubmittersRCV000005222 RCV000211736 RCV003234893
NM_001384140.1(PCDH15):c.1940C>G (p.Ser647Ter)	SNV Germline	Chr10:54090041	Pathogenic	Usher syndrome type 1F	Criteria Provided Single Submitter	CA253347	rs_137853004	2 SubmittersRCV000005224
NM_153676.4(USH1C):c.216G>A (p.Val72=)	SNV Germline	Chr11:17531431	Pathogenic	Usher syndrome type 1C Usher syndrome Condition: not provided Usher syndrome type 1 Rare genetic deafness Usher syndrome type 1 Autosomal recessive nonsyndromic hearing loss 18A Usher syndrome type 1C Autosomal recessive nonsyndromic hearing loss 18A USH1C-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA340349	rs_151045328	17 SubmittersRCV000005450 RCV000504855 RCV000724016 RCV000220605 RCV000824776 RCV000763237 RCV000984012 RCV004755714
NM_153676.4(USH1C):c.36+1G>T	SNV Germline	Chr11:17544271	Pathogenic	Usher syndrome type 1C	No Assertion Criteria Provided	CA379804970	rs_1403777293	2 SubmittersRCV000005451
NM_153676.4(USH1C):c.91C>T (p.Arg31Ter)	SNV Germline	Chr11:17533268	Pathogenic	Usher syndrome type 1C Autosomal recessive nonsyndromic hearing loss 18A Condition: not provided Autosomal recessive nonsyndromic hearing loss 18A Usher syndrome type 1 Usher syndrome type 1C	Criteria Provided Multiple Submitters No Conflicts	CA253419	rs_121908370	7 SubmittersRCV000005453 RCV000983994 RCV000595941 RCV000763238
NM_153676.4(USH1C):c.1823C>G (p.Pro608Arg)	SNV Germline	Chr11:17509546	Conflicting classifications of pathogenicity	Autosomal recessive nonsyndromic hearing loss 18A not specified Condition: not provided Usher syndrome type 1C Meniere disease Retinal dystrophy Optic atrophy Usher syndrome type 1 Usher syndrome type 1C Autosomal recessive nonsyndromic hearing loss 18A	Criteria Provided Conflicting Classifications	CA142309	rs_41282932	10 SubmittersRCV000005455 RCV000041259 RCV000755427 RCV001276292 RCV001797045 RCV004814837 RCV004814838 RCV005394121
NM_032119.4(ADGRV1):c.6901C>T (p.Gln2301Ter)	SNV Germline	Chr5:90690991	Pathogenic/Likely pathogenic	Usher syndrome type 2C Usher syndrome Condition: not provided Rare genetic deafness Febrile seizures, familial, 4 Usher syndrome type 2C	Criteria Provided Multiple Submitters No Conflicts	CA253955	rs_121909762	10 SubmittersRCV000007200 RCV000505021 RCV000727026 RCV000844603 RCV000763550
NM_032119.4(ADGRV1):c.18131A>G (p.Tyr6044Cys)	SNV Germline	Chr5:90985501	Pathogenic	Usher syndrome type 2C	No Assertion Criteria Provided	CA253960	rs_121909763	1 SubmittersRCV000007204
NM_000260.4(MYO7A):c.448C>T (p.Arg150Ter)	SNV Germline	Chr11:77156069	Pathogenic	Usher syndrome type 1B Usher syndrome Condition: not provided Autosomal recessive nonsyndromic hearing loss 2	Criteria Provided Multiple Submitters No Conflicts	CA277957	rs_121965079	5 SubmittersRCV000012621 RCV000036148 RCV001390811 RCV004786253
NM_000260.4(MYO7A):c.700C>T (p.Gln234Ter)	SNV Germline	Chr11:77156969	Pathogenic	Usher syndrome type 1B Rare genetic deafness Usher syndrome type 1 Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1 Condition: not provided Autosomal recessive nonsyndromic hearing loss 2	Criteria Provided Multiple Submitters No Conflicts	CA277959	rs_41298133	9 SubmittersRCV000012622 RCV000036246 RCV000669392 RCV001003081 RCV001390813 RCV001807725
NM_000260.4(MYO7A):c.635G>A (p.Arg212His)	SNV Germline	Chr11:77156904	Pathogenic/Likely pathogenic	Rare genetic deafness Usher syndrome type 1B Usher syndrome type 1 Autosomal recessive nonsyndromic hearing loss 2 Condition: not provided Usher syndrome Retinal dystrophy Autosomal recessive nonsyndromic hearing loss 2	Criteria Provided Multiple Submitters No Conflicts	CA277961	rs_28934610	13 SubmittersRCV000036232 RCV000012624 RCV000665766 RCV001221383 RCV003389443 RCV001073914 RCV004786254
NM_000260.4(MYO7A):c.634C>T (p.Arg212Cys)	SNV Germline	Chr11:77156903	Pathogenic/Likely pathogenic	Usher syndrome type 1B Condition: not provided Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1 Autosomal dominant nonsyndromic hearing loss 11	Criteria Provided Multiple Submitters No Conflicts	CA277962	rs_121965080	5 SubmittersRCV000012625 RCV001047241 RCV005007838
NM_000260.4(MYO7A):c.731G>C (p.Arg244Pro)	SNV Germline	Chr11:77157000	Pathogenic	Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome	Criteria Provided Single Submitter	CA121720	rs_121965081	2 SubmittersRCV000012627 RCV003492291
NM_000260.4(MYO7A):c.1797G>A (p.Met599Ile)	SNV Germline	Chr11:77166162	Pathogenic	Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1B	No Assertion Criteria Provided	CA121721	rs_121965082	1 SubmittersRCV000012630 RCV000012631
NM_000260.4(MYO7A):c.1884C>A (p.Cys628Ter)	SNV Germline	Chr11:77172834	Pathogenic	Usher syndrome type 1B Condition: not provided	Criteria Provided Single Submitter	CA277963	rs_121965083	2 SubmittersRCV000012633 RCV002512985
NM_000260.4(MYO7A):c.93C>A (p.Cys31Ter)	SNV Germline	Chr11:77142783	Pathogenic	Usher syndrome type 1B Rare genetic deafness Usher syndrome type 1 Autosomal recessive nonsyndromic hearing loss 2 Retinitis pigmentosa Hearing loss, autosomal recessive Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA277965	rs_35689081	8 SubmittersRCV000012634 RCV000154341 RCV000665804 RCV000787856 RCV001291462 RCV001226256
NM_000260.4(MYO7A):c.1996C>T (p.Arg666Ter)	SNV Germline	Chr11:77174816	Pathogenic	Usher syndrome type 1B Rare genetic deafness Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1 Condition: not provided Autosomal recessive nonsyndromic hearing loss 2 Autosomal dominant nonsyndromic hearing loss 11 Usher syndrome type 1	Criteria Provided Multiple Submitters No Conflicts	CA277967	rs_121965085	8 SubmittersRCV000012635 RCV000151490 RCV000669149 RCV001091731 RCV002490356
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)	SNV Germline	Chr11:66526181	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome 1 Condition: not provided Bardet-Biedl syndrome Retinal dystrophy Retinitis pigmentosa Usher syndrome See cases BBS1-related disorder Inborn genetic diseases Severe early-childhood-onset retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA223760	rs_113624356	54 SubmittersRCV000012926 RCV000082202 RCV000174408 RCV000210319 RCV000504693 RCV000787785 RCV002251900 RCV003390672 RCV002513000 RCV005621849
NM_001384140.1(PCDH15):c.1583T>A (p.Val528Asp)	SNV Germline	Chr10:54183451	Pathogenic/Likely pathogenic	Autosomal recessive nonsyndromic hearing loss 23 Condition: not provided Usher syndrome type 1F Usher syndrome type 1F Autosomal recessive nonsyndromic hearing loss 23 Usher syndrome type 1D	Criteria Provided Multiple Submitters No Conflicts	CA253349	rs_267606932	5 SubmittersRCV000005225 RCV001851963 RCV002513133 RCV005042067
NM_002109.6(HARS1):c.1361A>C (p.Tyr454Ser)	SNV Germline	Chr5:140674776	Conflicting classifications of pathogenicity	Usher syndrome type 3B not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA277969	rs_387906639	5 SubmittersRCV000022619 RCV000608744 RCV000623702
NM_000260.4(MYO7A):c.652G>A (p.Asp218Asn)	SNV Germline	Chr11:77156921	Pathogenic/Likely pathogenic	Rare genetic deafness Autosomal dominant nonsyndromic hearing loss 11 Condition: not provided Usher syndrome type 1B Usher syndrome type 1 Autosomal recessive nonsyndromic hearing loss 2 Autosomal dominant nonsyndromic hearing loss 11 See cases	Criteria Provided Multiple Submitters No Conflicts	CA259686	rs_201539845	10 SubmittersRCV000215956 RCV000022815 RCV000822163 RCV001275897 RCV005007888 RCV002251923
NM_000260.4(MYO7A):c.1184G>A (p.Arg395His)	SNV Germline	Chr11:77160266	Pathogenic/Likely pathogenic	Autosomal recessive nonsyndromic hearing loss 2 Condition: not provided Usher syndrome	Criteria Provided Multiple Submitters No Conflicts	CA128772	rs_387906700	4 SubmittersRCV000022817 RCV001852003 RCV003317043
NM_206933.4(USH2A):c.7595-2144A>G	SNV Germline	Chr1:215891198	Pathogenic/Likely pathogenic	Usher syndrome type 2A Usher syndrome Usher syndrome type 2A Retinitis pigmentosa 39 Retinitis pigmentosa Condition: not provided Usher syndrome type 2 Retinal dystrophy Retinitis pigmentosa 39 USH2A-related disorder Rare genetic deafness	Criteria Provided Multiple Submitters No Conflicts	CA259896	rs_786200928	25 SubmittersRCV000023700 RCV000505092 RCV000664608 RCV000787740 RCV000814767 RCV001003267 RCV001074209 RCV001376510 RCV001824575 RCV004017262
NM_153676.4(USH1C):c.308G>A (p.Arg103His)	SNV Germline	Chr11:17531233	Pathogenic/Likely pathogenic	Usher syndrome type 1C Autosomal recessive nonsyndromic hearing loss 18A Usher syndrome type 1 Condition: not provided Autosomal recessive nonsyndromic hearing loss 18A Usher syndrome type 1C	Criteria Provided Multiple Submitters No Conflicts	CA261116	rs_397514500	7 SubmittersRCV000032622 RCV000662094 RCV000662095 RCV001377937 RCV000675046
NM_153676.4(USH1C):c.2227-1G>A	SNV Germline	Chr11:17501536	Pathogenic	Usher syndrome type 1C	No Assertion Criteria Provided	CA379803667	rs_778110397	1 SubmittersRCV000032623
NM_006383.4(CIB2):c.272T>C (p.Phe91Ser)	SNV Germline	Chr15:78109309	Likely pathogenic	Autosomal recessive nonsyndromic hearing loss 48 Hearing loss, autosomal recessive Usher syndrome type 1J Autosomal recessive nonsyndromic hearing loss 48	Criteria Provided Single Submitter	CA130456	rs_397515411	3 SubmittersRCV000032887 RCV001291223 RCV002496493
NM_000260.4(MYO7A):c.1097T>C (p.Leu366Pro)	SNV Germline	Chr11:77160179	Pathogenic/Likely pathogenic	Rare genetic deafness Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1 Condition: not provided Retinal dystrophy Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA278619	rs_397516281	6 SubmittersRCV000036037 RCV000666645 RCV001268216 RCV004814936 RCV004955264
NM_000260.4(MYO7A):c.1132C>T (p.Arg378Cys)	SNV Germline	Chr11:77160214	Conflicting classifications of pathogenicity	not specified Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1 Retinal dystrophy Usher syndrome type 1B Condition: not provided Autosomal recessive nonsyndromic hearing loss 2 Autosomal dominant nonsyndromic hearing loss 11 Usher syndrome type 1 MYO7A-related disorder	Criteria Provided Conflicting Classifications	CA132196	rs_199818783	10 SubmittersRCV000036039 RCV000665432 RCV001075067 RCV001831624 RCV001247583 RCV001111945 RCV001111946 RCV001111947 RCV004734540
NM_000260.4(MYO7A):c.1200+1G>A	SNV Germline	Chr11:77160283	Pathogenic/Likely pathogenic	Rare genetic deafness Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1 Condition: not provided Autosomal recessive nonsyndromic hearing loss 2 Autosomal dominant nonsyndromic hearing loss 11 Usher syndrome type 1	Criteria Provided Multiple Submitters No Conflicts	CA278621	rs_397516283	4 SubmittersRCV000036042 RCV000672265 RCV001852737 RCV005007939
NM_000260.4(MYO7A):c.132+5G>A	SNV Germline	Chr11:77142827	Conflicting classifications of pathogenicity	Rare genetic deafness Retinal dystrophy Usher syndrome type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA278622	rs_397516284	4 SubmittersRCV000036044 RCV000225545 RCV005252708 RCV002513367
NM_000260.4(MYO7A):c.133-7C>T	SNV Germline	Chr11:77147791	Conflicting classifications of pathogenicity	not specified Autosomal dominant nonsyndromic hearing loss 11 Usher syndrome type 1 Autosomal recessive nonsyndromic hearing loss 2 Condition: not provided Usher syndrome type 1B	Criteria Provided Conflicting Classifications	CA132204	rs_111033221	12 SubmittersRCV000036045 RCV000291242 RCV000339300 RCV000383502 RCV000950439 RCV001275885
NM_000260.4(MYO7A):c.1344-2A>G	SNV Germline	Chr11:77162118	Pathogenic	Rare genetic deafness Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1 Condition: not provided Nonsyndromic genetic hearing loss Usher syndrome type 1B Ear malformation	Criteria Provided Multiple Submitters No Conflicts	CA278623	rs_111033415	7 SubmittersRCV000036047 RCV000665311 RCV001852738 RCV001544528 RCV001831626 RCV001814023
NM_000260.4(MYO7A):c.1496T>C (p.Ile499Thr)	SNV Germline	Chr11:77162272	Conflicting classifications of pathogenicity	not specified Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA132210	rs_397516286	3 SubmittersRCV000036053 RCV000669217 RCV001367505
NM_000260.4(MYO7A):c.1554+8G>A	SNV Germline	Chr11:77162338	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 1 Autosomal recessive nonsyndromic hearing loss 2 Autosomal dominant nonsyndromic hearing loss 11 Usher syndrome type 1B	Criteria Provided Conflicting Classifications	CA132212	rs_111033227	7 SubmittersRCV000036054 RCV000724629 RCV001112496 RCV001112497 RCV001112498 RCV001276677
NM_000260.4(MYO7A):c.1556G>A (p.Gly519Asp)	SNV Germline	Chr11:77162854	Pathogenic/Likely pathogenic	Usher syndrome type 1 Usher syndrome type 1 Autosomal recessive nonsyndromic hearing loss 2 Condition: not provided Rare genetic deafness Autosomal dominant nonsyndromic hearing loss 11 Usher syndrome type 1B Usher syndrome	Criteria Provided Multiple Submitters No Conflicts	CA278629	rs_111033206	8 SubmittersRCV000036055 RCV000669343 RCV000817879 RCV000844714 RCV001262910 RCV001831628 RCV003492341
NM_000260.4(MYO7A):c.1605C>T (p.Asn535=)	SNV Germline	Chr11:77162903	Conflicting classifications of pathogenicity	not specified Autosomal dominant nonsyndromic hearing loss 11 Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1 Condition: not provided Usher syndrome type 1B	Criteria Provided Conflicting Classifications	CA132213	rs_111033228	9 SubmittersRCV000036057 RCV000283451 RCV000347843 RCV000402432 RCV000886630 RCV001272492
NM_000260.4(MYO7A):c.1854G>A (p.Leu618=)	SNV Germline	Chr11:77172804	Conflicting classifications of pathogenicity	not specified Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1 Autosomal dominant nonsyndromic hearing loss 11 Condition: not provided	Criteria Provided Conflicting Classifications	CA132225	rs_35429535	8 SubmittersRCV000036065 RCV000265173 RCV000324225 RCV000378842 RCV000882335
NM_000260.4(MYO7A):c.1868G>A (p.Arg623His)	SNV Germline	Chr11:77172818	Conflicting classifications of pathogenicity	not specified Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1 Condition: not provided Usher syndrome type 1B Autosomal recessive nonsyndromic hearing loss 2 Autosomal dominant nonsyndromic hearing loss 11 Usher syndrome type 1	Criteria Provided Conflicting Classifications	CA132227	rs_111033416	7 SubmittersRCV000036066 RCV000664583 RCV000933794 RCV001276681 RCV005003422
NM_000260.4(MYO7A):c.19-1G>A	SNV Germline	Chr11:77142708	Likely pathogenic	Rare genetic deafness Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA278634	rs_111033426	3 SubmittersRCV000036067 RCV000666110 RCV001852739
NM_000260.4(MYO7A):c.1900C>T (p.Arg634Ter)	SNV Germline	Chr11:77172850	Pathogenic/Likely pathogenic	Usher syndrome type 1 Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1 Autosomal dominant nonsyndromic hearing loss 11 Rare genetic deafness Condition: not provided Usher syndrome type 1B Retinal dystrophy Autosomal recessive nonsyndromic hearing loss 2	Criteria Provided Multiple Submitters No Conflicts	CA278635	rs_111033180	9 SubmittersRCV000036068 RCV000763275 RCV000844715 RCV001238560 RCV001272497 RCV004814938 RCV005409611
NM_000260.4(MYO7A):c.2002C>T (p.Arg668Cys)	SNV Germline	Chr11:77174822	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 1 Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1 Autosomal dominant nonsyndromic hearing loss 11	Criteria Provided Conflicting Classifications	CA132231	rs_397516292	7 SubmittersRCV000036072 RCV000489211 RCV001810407 RCV005007941
NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter)	SNV Germline	Chr11:77174825	Pathogenic	Usher syndrome type 1 Autosomal recessive nonsyndromic hearing loss 2 Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1 Autosomal dominant nonsyndromic hearing loss 11 Usher syndrome Condition: not provided MYO7A-related disorder Rare genetic deafness Usher syndrome type 1B	Criteria Provided Multiple Submitters No Conflicts	CA278640	rs_111033201	10 SubmittersRCV000036073 RCV000409801 RCV000763277 RCV000504864 RCV000443077 RCV004528175 RCV000844716 RCV001272498
NM_000260.4(MYO7A):c.2122A>G (p.Met708Val)	SNV Germline	Chr11:77175399	Conflicting classifications of pathogenicity	not specified Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1 Condition: not provided Autosomal dominant nonsyndromic hearing loss 11 Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1	Criteria Provided Conflicting Classifications	CA132235	rs_397516293	7 SubmittersRCV000036077 RCV000665188 RCV001288311 RCV001578680 RCV001578681 RCV001526753
NM_000260.4(MYO7A):c.2187+1G>A	SNV Germline	Chr11:77175465	Pathogenic/Likely pathogenic	Rare genetic deafness Condition: not provided Usher syndrome type 1 Nonsyndromic genetic hearing loss Autosomal dominant nonsyndromic hearing loss 11 Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1	Criteria Provided Multiple Submitters No Conflicts	CA278645	rs_111033290	10 SubmittersRCV000036079 RCV000519124 RCV001003084 RCV004786305 RCV002477079
NM_000260.4(MYO7A):c.2218C>T (p.Arg740Trp)	SNV Germline	Chr11:77177579	Conflicting classifications of pathogenicity	not specified Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1 Usher syndrome type 1B Condition: not provided Autosomal recessive nonsyndromic hearing loss 2 Autosomal dominant nonsyndromic hearing loss 11 Usher syndrome type 1	Criteria Provided Conflicting Classifications	CA132237	rs_201234369	6 SubmittersRCV000036080 RCV000666826 RCV001276686 RCV001852742 RCV001112680 RCV001112681 RCV001112682
NM_000260.4(MYO7A):c.2283-1G>T	SNV Germline	Chr11:77179044	Pathogenic	Usher syndrome type 1 Rare genetic deafness Autosomal dominant nonsyndromic hearing loss 11 Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1 Condition: not provided Usher syndrome type 1B Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA278646	rs_397516295	11 SubmittersRCV000036082 RCV000844717 RCV001329739 RCV000666504 RCV001383209 RCV001831630 RCV004814939
NM_000260.4(MYO7A):c.2283G>A (p.Arg761=)	SNV Germline	Chr11:77179045	Conflicting classifications of pathogenicity	not specified Autosomal recessive nonsyndromic hearing loss 2 Autosomal dominant nonsyndromic hearing loss 11 Usher syndrome type 1 Condition: not provided Inborn genetic diseases MYO7A-related disorder Hearing impairment	Criteria Provided Conflicting Classifications	CA132241	rs_111033229	7 SubmittersRCV000036083 RCV000264923 RCV000359683 RCV000329331 RCV001041319 RCV004018784 RCV004534754 RCV005624725
NM_000260.4(MYO7A):c.2293C>A (p.Leu765Met)	SNV Germline	Chr11:77179055	Conflicting classifications of pathogenicity	not specified Autosomal dominant nonsyndromic hearing loss 11 Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1 Condition: not provided Usher syndrome type 1B Inborn genetic diseases Usher syndrome type 1 Autosomal dominant nonsyndromic hearing loss 11 Autosomal recessive nonsyndromic hearing loss 2	Criteria Provided Conflicting Classifications	CA132243	rs_201203036	8 SubmittersRCV000036084 RCV000270954 RCV000326027 RCV000383860 RCV000727020 RCV001276689 RCV004018785 RCV005003423
NM_000260.4(MYO7A):c.2447G>A (p.Arg816His)	SNV Germline	Chr11:77179814	Conflicting classifications of pathogenicity	not specified Autosomal dominant nonsyndromic hearing loss 11 Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1 Condition: not provided Usher syndrome type 1B	Criteria Provided Conflicting Classifications	CA132249	rs_148343670	6 SubmittersRCV000036087 RCV000286068 RCV000343328 RCV000404583 RCV000904369 RCV001831631
NM_000260.4(MYO7A):c.2558G>A (p.Arg853His)	SNV Germline	Chr11:77179925	Likely pathogenic	not specified Condition: not provided Autosomal dominant nonsyndromic hearing loss 11 Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1 Nonsyndromic genetic hearing loss Autosomal dominant nonsyndromic hearing loss 11 MYO7A-related disorder	Reviewed By Expert Panel	CA132255	rs_111033437	10 SubmittersRCV000036090 RCV000724679 RCV000765015 RCV001004783 RCV000791456 RCV004534755
NM_000260.4(MYO7A):c.2617C>T (p.Arg873Trp)	SNV Germline	Chr11:77180404	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1 Autosomal dominant nonsyndromic hearing loss 11 Usher syndrome type 1B Meniere disease MYO7A-related disorder	Criteria Provided Conflicting Classifications	CA132257	rs_200454015	11 SubmittersRCV000036091 RCV000724180 RCV000988606 RCV001110090 RCV001114121 RCV001276694 RCV001526685 RCV004734541
NM_000260.4(MYO7A):c.2882G>A (p.Gly961Asp)	SNV Germline	Chr11:77181567	Conflicting classifications of pathogenicity	not specified Usher syndrome type 1 Autosomal recessive nonsyndromic hearing loss 2 Autosomal dominant nonsyndromic hearing loss 11 Condition: not provided Usher syndrome type 1B Optic atrophy	Criteria Provided Conflicting Classifications	CA132268	rs_199575418	7 SubmittersRCV000036097 RCV000263497 RCV000316472 RCV000354842 RCV001041392 RCV001831632 RCV004814940
NM_000260.4(MYO7A):c.2886G>C (p.Gln962His)	SNV Germline	Chr11:77181571	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal dominant nonsyndromic hearing loss 11 Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1 Hearing impairment Cone-rod dystrophy	Criteria Provided Conflicting Classifications	CA132270	rs_200641606	14 SubmittersRCV000036098 RCV000585012 RCV001114199 RCV001114201 RCV001114200 RCV001375324 RCV005625220
NM_000260.4(MYO7A):c.2904G>T (p.Glu968Asp)	SNV Germline	Chr11:77181589	Likely pathogenic	Rare genetic deafness Condition: not provided Autosomal recessive nonsyndromic hearing loss 2 Autosomal dominant nonsyndromic hearing loss 11 Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1 Usher syndrome type 1B Retinal dystrophy	Reviewed By Expert Panel	CA278647	rs_111033233	7 SubmittersRCV000036100 RCV000414534 RCV001580451 RCV005007942 RCV003114213 RCV004814941
NM_000260.4(MYO7A):c.3042G>T (p.Thr1014=)	SNV Germline	Chr11:77182088	Conflicting classifications of pathogenicity	not specified Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1 Autosomal dominant nonsyndromic hearing loss 11 Condition: not provided Usher syndrome type 1B	Criteria Provided Conflicting Classifications	CA132278	rs_111033507	7 SubmittersRCV000036103 RCV000284666 RCV000328258 RCV000385063 RCV000956980 RCV001826543
NM_000260.4(MYO7A):c.3246G>A (p.Thr1082=)	SNV Germline	Chr11:77182561	Conflicting classifications of pathogenicity	not specified Usher syndrome type 1 Autosomal dominant nonsyndromic hearing loss 11 Autosomal recessive nonsyndromic hearing loss 2 Condition: not provided Usher syndrome type 1B	Criteria Provided Conflicting Classifications	CA132280	rs_35963362	5 SubmittersRCV000036104 RCV000296667 RCV000349362 RCV000402994 RCV000879767 RCV001831633
NM_000260.4(MYO7A):c.3404C>A (p.Ser1135Tyr)	SNV Germline	Chr11:77184616	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 1B	Criteria Provided Conflicting Classifications	CA132288	rs_376688581	5 SubmittersRCV000036109 RCV000725729 RCV001271745
NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val)	SNV Germline	Chr11:77184688	Pathogenic/Likely pathogenic	Rare genetic deafness Condition: not provided Autosomal recessive nonsyndromic hearing loss 2 Retinal dystrophy Hearing loss Usher syndrome type 1B Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1 Autosomal dominant nonsyndromic hearing loss 11 Hereditary breast ovarian cancer syndrome MYO7A-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA132291	rs_199897298	17 SubmittersRCV000036110 RCV000312187 RCV000664879 RCV001073977 RCV001270103 RCV001272512 RCV002496550 RCV004541086 RCV004579535
NM_000260.4(MYO7A):c.3508G>A (p.Glu1170Lys)	SNV Germline	Chr11:77189348	Pathogenic	Rare genetic deafness Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1 Autosomal recessive nonsyndromic hearing loss 2 Autosomal recessive nonsyndromic hearing loss 2 Autosomal dominant nonsyndromic hearing loss 11 Usher syndrome type 1 Usher syndrome type 1B Retinal dystrophy Hearing loss, autosomal recessive Condition: not provided MYO7A-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA278649	rs_111033214	10 SubmittersRCV000036112 RCV000664470 RCV000988609 RCV000763278 RCV001826545 RCV001075104 RCV001291476 RCV001385688 RCV004541087
NM_000260.4(MYO7A):c.358C>A (p.Arg120Ser)	SNV Germline	Chr11:77155979	Conflicting classifications of pathogenicity	not specified Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1 Condition: not provided Usher syndrome type 1B Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA132295	rs_397516302	7 SubmittersRCV000036117 RCV000665697 RCV000756411 RCV001831635 RCV005443014
NM_000260.4(MYO7A):c.359G>A (p.Arg120His)	SNV Germline	Chr11:77155980	Conflicting classifications of pathogenicity	not specified Retinal dystrophy Autosomal dominant nonsyndromic hearing loss 11 Usher syndrome type 1B Condition: not provided	Criteria Provided Conflicting Classifications	CA132297	rs_369493667	6 SubmittersRCV000036118 RCV004814942 RCV001196537 RCV001275889 RCV001785454
NM_000260.4(MYO7A):c.3602G>C (p.Cys1201Ser)	SNV Germline	Chr11:77189442	Conflicting classifications of pathogenicity	not specified Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1 Autosomal dominant nonsyndromic hearing loss 11 Condition: not provided Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1 MYO7A-related disorder	Criteria Provided Conflicting Classifications	CA132299	rs_117966637	7 SubmittersRCV000036119 RCV000665509 RCV001002751 RCV000937221 RCV001111010 RCV001111011 RCV004734542
NM_000260.4(MYO7A):c.3652G>A (p.Gly1218Arg)	SNV Germline	Chr11:77190041	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome	Criteria Provided Conflicting Classifications	CA132301	rs_111033195	3 SubmittersRCV000036120 RCV001852744 RCV003230377
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln)	SNV Germline	Chr11:77190108	Pathogenic	Usher syndrome type 1 Condition: not provided Usher syndrome Usher syndrome type 1 Autosomal dominant nonsyndromic hearing loss 11 Autosomal recessive nonsyndromic hearing loss 2 Inborn genetic diseases Autosomal recessive nonsyndromic hearing loss 2 Retinal dystrophy Usher syndrome type 1B MYO7A-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA278657	rs_111033178	18 SubmittersRCV000036122 RCV000256123 RCV000504703 RCV000763279 RCV000623302 RCV000984006 RCV001075882 RCV001272514 RCV004528176
NM_000260.4(MYO7A):c.3750+7G>A	SNV Germline	Chr11:77190146	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 1B	Criteria Provided Conflicting Classifications	CA132304	rs_397516305	4 SubmittersRCV000036125 RCV000726843 RCV001271749
NM_000260.4(MYO7A):c.3750+9G>A	SNV Germline	Chr11:77190148	Conflicting classifications of pathogenicity	not specified Autosomal recessive nonsyndromic hearing loss 2 Autosomal dominant nonsyndromic hearing loss 11 Usher syndrome type 1 Usher syndrome type 1B Condition: not provided	Criteria Provided Conflicting Classifications	CA132305	rs_111033252	10 SubmittersRCV000036126 RCV000292943 RCV000332524 RCV000389407 RCV001271750 RCV000724300
NM_000260.4(MYO7A):c.380T>C (p.Ile127Thr)	SNV Germline	Chr11:77156001	Conflicting classifications of pathogenicity	not specified Autosomal dominant nonsyndromic hearing loss 11 Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1 Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1 Condition: not provided MYO7A-related disorder	Criteria Provided Conflicting Classifications	CA132306	rs_41298131	6 SubmittersRCV000036128 RCV000324036 RCV000267119 RCV000371726 RCV000665330 RCV001034155 RCV004734543
NM_000260.4(MYO7A):c.3978C>T (p.Cys1326=)	SNV Germline	Chr11:77192104	Conflicting classifications of pathogenicity	not specified Autosomal recessive nonsyndromic hearing loss 2 Autosomal dominant nonsyndromic hearing loss 11 Condition: not provided Usher syndrome type 1 MYO7A-related disorder	Criteria Provided Conflicting Classifications	CA132311	rs_111033376	5 SubmittersRCV000036131 RCV001113089 RCV001114464 RCV000761794 RCV001114465 RCV004734544
NM_000260.4(MYO7A):c.397C>T (p.His133Tyr)	SNV Germline	Chr11:77156018	Pathogenic/Likely pathogenic	Rare genetic deafness Condition: not provided Autosomal dominant nonsyndromic hearing loss 11 Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1 Usher syndrome type 1 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA278660	rs_111033403	5 SubmittersRCV000036132 RCV001852746 RCV002482971 RCV003987336 RCV004814943
NM_000260.4(MYO7A):c.401T>A (p.Ile134Asn)	SNV Germline	Chr11:77156022	Pathogenic	Rare genetic deafness Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1 Retinal dystrophy Usher syndrome Condition: not provided MYO7A-related disorder Autosomal recessive nonsyndromic hearing loss 2 Autosomal dominant nonsyndromic hearing loss 11 Usher syndrome type 1	Reviewed By Expert Panel	CA278663	rs_111033181	8 SubmittersRCV000036134 RCV000673536 RCV001074683 RCV001775073 RCV001231996 RCV004528177 RCV005007943
NM_000260.4(MYO7A):c.4074C>T (p.Ser1358=)	SNV Germline	Chr11:77192200	Conflicting classifications of pathogenicity	not specified Autosomal recessive nonsyndromic hearing loss 2 Autosomal dominant nonsyndromic hearing loss 11 Usher syndrome type 1 Condition: not provided Cohen syndrome Usher syndrome type 1B	Criteria Provided Conflicting Classifications	CA132315	rs_78996818	9 SubmittersRCV000036137 RCV000261940 RCV000386752 RCV000319840 RCV000963474 RCV001449923 RCV001273497
NM_000260.4(MYO7A):c.4293G>A (p.Trp1431Ter)	SNV Germline	Chr11:77194494	Pathogenic/Likely pathogenic	Rare genetic deafness Retinal dystrophy Condition: not provided Usher syndrome type 1B	Criteria Provided Multiple Submitters No Conflicts	CA278665	rs_397516308	4 SubmittersRCV000036140 RCV001075167 RCV001852747 RCV001835644
NM_000260.4(MYO7A):c.4360G>A (p.Val1454Ile)	SNV Germline	Chr11:77197517	Conflicting classifications of pathogenicity	not specified Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1 Autosomal recessive nonsyndromic hearing loss 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA132320	rs_397516309	4 SubmittersRCV000036141 RCV000666151 RCV000988612 RCV001244369
NM_000260.4(MYO7A):c.4442-2A>C	SNV Germline	Chr11:77198493	Likely pathogenic	Condition: not provided Usher syndrome type 1B Rare genetic deafness	Criteria Provided Multiple Submitters No Conflicts	CA278669	rs_111033337	3 SubmittersRCV001379547 RCV005606638 RCV000036144
NM_000260.4(MYO7A):c.4450C>T (p.Leu1484Phe)	SNV Germline	Chr11:77198503	Conflicting classifications of pathogenicity	not specified Usher syndrome type 1 Autosomal dominant nonsyndromic hearing loss 11 Autosomal recessive nonsyndromic hearing loss 2 Condition: not provided Usher syndrome type 1B Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1 Autosomal dominant nonsyndromic hearing loss 11	Criteria Provided Conflicting Classifications	CA132324	rs_200416912	10 SubmittersRCV000036145 RCV000778344 RCV001113191 RCV001113192 RCV001239874 RCV001273499 RCV005394219
NM_000260.4(MYO7A):c.4461C>T (p.Asn1487=)	SNV Germline	Chr11:77198514	Conflicting classifications of pathogenicity	not specified Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1 Autosomal dominant nonsyndromic hearing loss 11 Condition: not provided Usher syndrome type 1B	Criteria Provided Conflicting Classifications	CA132326	rs_56174006	10 SubmittersRCV000036146 RCV000391381 RCV000291934 RCV000344591 RCV000959206 RCV001273500
NM_000260.4(MYO7A):c.4471G>A (p.Val1491Met)	SNV Germline	Chr11:77198524	Conflicting classifications of pathogenicity	not specified Condition: not provided Inborn genetic diseases Usher syndrome type 1B	Criteria Provided Conflicting Classifications	CA132328	rs_369768947	5 SubmittersRCV000036147 RCV001241478 RCV004018786 RCV001826548
NM_000260.4(MYO7A):c.449G>A (p.Arg150Gln)	SNV Germline	Chr11:77156070	Conflicting classifications of pathogenicity	not specified 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 Usher syndrome type 1 Usher syndrome type 1B Retinal dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA132330	rs_202245413	9 SubmittersRCV000036149 RCV000765012 RCV001109455 RCV001109456 RCV001109457 RCV001275891 RCV004814944 RCV001241133
NM_000260.4(MYO7A):c.4577G>A (p.Arg1526His)	SNV Germline	Chr11:77199543	Conflicting classifications of pathogenicity	not specified Usher syndrome type 1 Autosomal recessive nonsyndromic hearing loss 2 Autosomal dominant nonsyndromic hearing loss 11 Usher syndrome type 1B Condition: not provided	Criteria Provided Conflicting Classifications	CA132333	rs_397516311	5 SubmittersRCV000036152 RCV001108928 RCV001108929 RCV001108927 RCV001831636 RCV002513374
NM_000260.4(MYO7A):c.4619C>T (p.Ala1540Val)	SNV Germline	Chr11:77199585	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1 Autosomal dominant nonsyndromic hearing loss 11	Criteria Provided Conflicting Classifications	CA132337	rs_111033511	7 SubmittersRCV000036155 RCV000926624 RCV001578683 RCV001526433 RCV001578682
NM_000260.4(MYO7A):c.4620G>A (p.Ala1540=)	SNV Germline	Chr11:77199586	Conflicting classifications of pathogenicity	not specified Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1 Autosomal dominant nonsyndromic hearing loss 11 Condition: not provided MYO7A-related disorder	Criteria Provided Conflicting Classifications	CA132339	rs_41298745	7 SubmittersRCV000036156 RCV000319034 RCV000359709 RCV000263890 RCV000967226 RCV004541088
NM_000260.4(MYO7A):c.4698G>A (p.Thr1566=)	SNV Germline	Chr11:77199664	Conflicting classifications of pathogenicity	not specified Autosomal recessive nonsyndromic hearing loss 2 Autosomal dominant nonsyndromic hearing loss 11 Usher syndrome type 1 Condition: not provided Usher syndrome type 1B	Criteria Provided Conflicting Classifications	CA132347	rs_200207753	5 SubmittersRCV000036160 RCV000290552 RCV000350236 RCV000393918 RCV000879068 RCV001831637
NM_000260.4(MYO7A):c.4821T>A (p.Tyr1607Ter)	SNV Germline	Chr11:77199787	Pathogenic	Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1 Usher syndrome Usher syndrome type 1B Condition: not provided Rare genetic deafness	Criteria Provided Multiple Submitters No Conflicts	CA278674	rs_397516315	5 SubmittersRCV000670662 RCV004799757 RCV005606639 RCV001201930 RCV000036166
NM_000260.4(MYO7A):c.494C>T (p.Thr165Met)	SNV Germline	Chr11:77156683	Pathogenic/Likely pathogenic	Rare genetic deafness Autosomal recessive nonsyndromic hearing loss 2 Condition: not provided Retinal dystrophy Usher syndrome type 1B MYO7A-related disorder Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1 Autosomal dominant nonsyndromic hearing loss 11	Criteria Provided Multiple Submitters No Conflicts	CA278676	rs_111033174	9 SubmittersRCV000036169 RCV000666360 RCV000434773 RCV004814946 RCV001826551 RCV004734546 RCV005003426
NM_000260.4(MYO7A):c.4992C>T (p.Thr1664=)	SNV Germline	Chr11:77201587	Conflicting classifications of pathogenicity	not specified Autosomal dominant nonsyndromic hearing loss 11 Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1 Condition: not provided Usher syndrome type 1B	Criteria Provided Conflicting Classifications	CA132365	rs_181573957	6 SubmittersRCV000036173 RCV000274957 RCV000330070 RCV000383514 RCV000904370 RCV001835645
NM_000260.4(MYO7A):c.5101C>T (p.Arg1701Ter)	SNV Germline	Chr11:77202357	Pathogenic	Rare genetic deafness Retinal dystrophy Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1 Autosomal recessive nonsyndromic hearing loss 2 Condition: not provided Usher syndrome type 1 Autosomal recessive nonsyndromic hearing loss 2 Autosomal dominant nonsyndromic hearing loss 11 Usher syndrome type 1	Criteria Provided Multiple Submitters No Conflicts	CA278678	rs_111033182	7 SubmittersRCV000036175 RCV001074879 RCV000673155 RCV001807757 RCV001852749 RCV004546419 RCV005003427
NM_000260.4(MYO7A):c.5108C>T (p.Ala1703Val)	SNV Germline	Chr11:77202364	Conflicting classifications of pathogenicity	not specified Usher syndrome type 1 Condition: not provided Autosomal dominant nonsyndromic hearing loss 11 Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1B MYO7A-related disorder	Criteria Provided Conflicting Classifications	CA132369	rs_199561332	9 SubmittersRCV000036176 RCV000306975 RCV000724217 RCV000366371 RCV000404997 RCV001272803 RCV004534757
NM_000260.4(MYO7A):c.510G>A (p.Leu170=)	SNV Germline	Chr11:77156699	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1B MYO7A-related disorder Autosomal dominant nonsyndromic hearing loss 11 Usher syndrome type 1	Criteria Provided Conflicting Classifications	CA132371	rs_34477144	11 SubmittersRCV000036177 RCV000839307 RCV001111776 RCV001831639 RCV004541089 RCV001111775 RCV001111777
NM_000260.4(MYO7A):c.5227C>T (p.Arg1743Trp)	SNV Germline	Chr11:77203118	Conflicting classifications of pathogenicity	not specified Usher syndrome type 1 Autosomal dominant nonsyndromic hearing loss 11 Condition: not provided Usher syndrome type 1B MYO7A-related disorder Autosomal recessive nonsyndromic hearing loss 2	Criteria Provided Conflicting Classifications	CA132381	rs_111033287	11 SubmittersRCV000036183 RCV000286019 RCV000391447 RCV000723623 RCV001272808 RCV004534758 RCV000988615
NM_000260.4(MYO7A):c.5392C>T (p.Gln1798Ter)	SNV Germline	Chr11:77204141	Pathogenic	Rare genetic deafness Condition: not provided Retinal dystrophy Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1B Usher syndrome type 1	Criteria Provided Multiple Submitters No Conflicts	CA278682	rs_397516317	9 SubmittersRCV000036187 RCV000413379 RCV001074754 RCV000669320 RCV001273512 RCV004786307
NM_000260.4(MYO7A):c.5481-14G>A	SNV Germline	Chr11:77205448	Conflicting classifications of pathogenicity	not specified Autosomal dominant nonsyndromic hearing loss 11 Usher syndrome type 1 Autosomal recessive nonsyndromic hearing loss 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA132385	rs_113075052	3 SubmittersRCV000036188 RCV000267858 RCV000321752 RCV000357815 RCV001520332
NM_000260.4(MYO7A):c.5573T>C (p.Leu1858Pro)	SNV Germline	Chr11:77205554	Pathogenic/Likely pathogenic	Rare genetic deafness Autosomal recessive nonsyndromic hearing loss 2 Condition: not provided Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1 Autosomal dominant nonsyndromic hearing loss 11 MYO7A-related disorder Retinal dystrophy Usher syndrome type 1B	Criteria Provided Multiple Submitters No Conflicts	CA278684	rs_368657015	13 SubmittersRCV000036193 RCV000668342 RCV001268401 RCV000763283 RCV004528178 RCV004814948 RCV001273514
NM_000260.4(MYO7A):c.5598C>T (p.Leu1866=)	SNV Germline	Chr11:77205579	Conflicting classifications of pathogenicity	not specified Usher syndrome type 1 Autosomal dominant nonsyndromic hearing loss 11 Autosomal recessive nonsyndromic hearing loss 2 Condition: not provided Usher syndrome type 1B	Criteria Provided Conflicting Classifications	CA132394	rs_111033504	7 SubmittersRCV000036195 RCV000287528 RCV000322968 RCV000382284 RCV000956982 RCV001826552
NM_000260.4(MYO7A):c.5617C>T (p.Arg1873Trp)	SNV Germline	Chr11:77205598	Pathogenic	Rare genetic deafness Condition: not provided Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1 Usher syndrome type 1B Usher syndrome Autosomal recessive nonsyndromic hearing loss 2 Autosomal dominant nonsyndromic hearing loss 11 Usher syndrome type 1	Criteria Provided Multiple Submitters No Conflicts	CA278686	rs_397516321	8 SubmittersRCV000036196 RCV001069199 RCV000668897 RCV001826553 RCV003323370 RCV005003428
NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln)	SNV Germline	Chr11:77205599	Pathogenic	Rare genetic deafness Usher syndrome Condition: not provided Autosomal recessive nonsyndromic hearing loss 2 Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1 Autosomal dominant nonsyndromic hearing loss 11	Reviewed By Expert Panel	CA278687	rs_397516322	9 SubmittersRCV000036197 RCV001089676 RCV000594226 RCV000672711 RCV002504884
NM_000260.4(MYO7A):c.5619G>A (p.Arg1873=)	SNV Germline	Chr11:77205600	Conflicting classifications of pathogenicity	not specified Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1 Autosomal dominant nonsyndromic hearing loss 11 Usher syndrome type 1B Condition: not provided	Criteria Provided Conflicting Classifications	CA132395	rs_45450893	6 SubmittersRCV000036198 RCV000293847 RCV000328473 RCV000383003 RCV001273515 RCV001518734
NM_000260.4(MYO7A):c.5648G>A (p.Arg1883Gln)	SNV Germline	Chr11:77206108	Pathogenic/Likely pathogenic	Usher syndrome type 1 Condition: not provided Autosomal recessive nonsyndromic hearing loss 2 Rare genetic deafness Usher syndrome type 1B Usher syndrome Retinal dystrophy Autosomal dominant nonsyndromic hearing loss 11 Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1 MYO7A-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA278689	rs_111033215	13 SubmittersRCV000036199 RCV000413954 RCV000983988 RCV000844722 RCV001273516 RCV004782029 RCV004814949 RCV005007945 RCV004734547
NM_000260.4(MYO7A):c.5660C>T (p.Pro1887Leu)	SNV Germline	Chr11:77206120	Pathogenic/Likely pathogenic	Rare genetic deafness Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1 Condition: not provided Hearing loss, autosomal recessive Usher syndrome type 1	Criteria Provided Multiple Submitters No Conflicts	CA278690	rs_199606180	8 SubmittersRCV000036200 RCV000669133 RCV001223334 RCV001291104 RCV001376326
NM_000260.4(MYO7A):c.5804T>C (p.Leu1935Pro)	SNV Germline	Chr11:77207350	Likely pathogenic	Rare genetic deafness Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1 Condition: not provided Retinal dystrophy Usher syndrome Autosomal recessive nonsyndromic hearing loss 2 Autosomal dominant nonsyndromic hearing loss 11 Usher syndrome type 1	Reviewed By Expert Panel	CA278691	rs_397516323	6 SubmittersRCV000036203 RCV000675068 RCV002513375 RCV001074201 RCV001252670 RCV005007946
NM_000260.4(MYO7A):c.5824G>A (p.Gly1942Arg)	SNV Germline	Chr11:77207370	Conflicting classifications of pathogenicity	not specified Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1 Condition: not provided Usher syndrome Usher syndrome type 1B MYO7A-related disorder Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1 Autosomal dominant nonsyndromic hearing loss 11	Criteria Provided Conflicting Classifications	CA132400	rs_111033192	10 SubmittersRCV000036204 RCV000671433 RCV001531119 RCV003389444 RCV001826554 RCV004545738 RCV005007947
NM_000260.4(MYO7A):c.5824G>T (p.Gly1942Ter)	SNV Germline	Chr11:77207370	Pathogenic/Likely pathogenic	Rare genetic deafness Usher syndrome type 1 Condition: not provided Usher syndrome type 1B MYO7A-related disorder Retinal dystrophy Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1 Autosomal dominant nonsyndromic hearing loss 11	Criteria Provided Multiple Submitters No Conflicts	CA278693	rs_111033192	12 SubmittersRCV000036205 RCV000665920 RCV001204875 RCV001831641 RCV004528179 RCV004814950 RCV005007948
NM_000260.4(MYO7A):c.5866G>A (p.Val1956Ile)	SNV Germline	Chr11:77208439	Conflicting classifications of pathogenicity	not specified Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1 Autosomal dominant nonsyndromic hearing loss 11 Condition: not provided Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1 Usher syndrome type 1B	Criteria Provided Conflicting Classifications	CA132407	rs_142293185	12 SubmittersRCV000036210 RCV000369786 RCV000277461 RCV000312785 RCV000963284 RCV000669735 RCV001831642
NM_000260.4(MYO7A):c.5904C>T (p.His1968=)	SNV Germline	Chr11:77208477	Conflicting classifications of pathogenicity	not specified Autosomal recessive nonsyndromic hearing loss 2 Autosomal dominant nonsyndromic hearing loss 11 Usher syndrome type 1 Condition: not provided Usher syndrome type 1B	Criteria Provided Conflicting Classifications	CA132410	rs_41298753	8 SubmittersRCV000036214 RCV000284213 RCV000341592 RCV000376857 RCV000898379 RCV001272817
NM_000260.4(MYO7A):c.6070C>T (p.Arg2024Ter)	SNV Germline	Chr11:77211170	Pathogenic	Usher syndrome type 1 Usher syndrome type 1 Autosomal recessive nonsyndromic hearing loss 2 Rare genetic deafness Condition: not provided Usher syndrome type 1 Autosomal dominant nonsyndromic hearing loss 11 Autosomal recessive nonsyndromic hearing loss 2 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA278705	rs_111033198	8 SubmittersRCV000036223 RCV000665987 RCV000844725 RCV001210670 RCV002496554 RCV004814951
NM_000260.4(MYO7A):c.6165C>T (p.Ser2055=)	SNV Germline	Chr11:77211265	Conflicting classifications of pathogenicity	not specified Usher syndrome type 1B Condition: not provided	Criteria Provided Conflicting Classifications	CA132420	rs_397516327	6 SubmittersRCV000036224 RCV001272821 RCV000726540
NM_000260.4(MYO7A):c.6209G>A (p.Arg2070Gln)	SNV Germline	Chr11:77211309	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 1B MYO7A-related disorder	Criteria Provided Conflicting Classifications	CA132424	rs_397516328	5 SubmittersRCV000036226 RCV001038973 RCV001831644 RCV004734548
NM_000260.4(MYO7A):c.6214G>A (p.Val2072Ile)	SNV Germline	Chr11:77211314	Conflicting classifications of pathogenicity	not specified Autosomal recessive nonsyndromic hearing loss 2 Autosomal dominant nonsyndromic hearing loss 11 Usher syndrome type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA132426	rs_200313391	6 SubmittersRCV000036227 RCV000263244 RCV000320711 RCV000379059 RCV000515066
NM_000260.4(MYO7A):c.631A>G (p.Ser211Gly)	SNV Germline	Chr11:77156900	Pathogenic	Usher syndrome Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1 Usher syndrome type 1B Retinal dystrophy Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1 Autosomal dominant nonsyndromic hearing loss 11 Condition: not provided	Reviewed By Expert Panel	CA278707	rs_111033486	9 SubmittersRCV000036230 RCV000675104 RCV001275896 RCV001073506 RCV002496555 RCV001852751
NM_000260.4(MYO7A):c.640G>A (p.Gly214Arg)	SNV Germline	Chr11:77156909	Pathogenic/Likely pathogenic	Rare genetic deafness Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1 Condition: not provided Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1 Autosomal dominant nonsyndromic hearing loss 11 Usher syndrome type 1B Usher syndrome Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA278709	rs_111033283	10 SubmittersRCV000036233 RCV000667735 RCV001003080 RCV000724325 RCV000515404 RCV001835646 RCV003389445 RCV004814952
NM_000260.4(MYO7A):c.6439-2A>G	SNV Germline	Chr11:77213858	Pathogenic/Likely pathogenic	Rare genetic deafness Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1 Usher syndrome type 1B Condition: not provided Retinal dystrophy Autosomal recessive nonsyndromic hearing loss 2 Autosomal dominant nonsyndromic hearing loss 11 Usher syndrome type 1 MYO7A-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA278710	rs_397516330	9 SubmittersRCV000036235 RCV000664694 RCV001275537 RCV001208546 RCV004814953 RCV005007949 RCV004528180
NM_000260.4(MYO7A):c.6519C>T (p.Asn2173=)	SNV Germline	Chr11:77213940	Conflicting classifications of pathogenicity	not specified Autosomal recessive nonsyndromic hearing loss 2 Autosomal dominant nonsyndromic hearing loss 11 Usher syndrome type 1 Condition: not provided Usher syndrome type 1B	Criteria Provided Conflicting Classifications	CA132436	rs_111033230	8 SubmittersRCV000036237 RCV000300484 RCV000357524 RCV000402816 RCV000992408 RCV001831645
NM_000260.4(MYO7A):c.6560G>A (p.Gly2187Asp)	SNV Germline	Chr11:77214608	Likely pathogenic	Usher syndrome Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1 Usher syndrome type 1B	Reviewed By Expert Panel	CA278713	rs_397516332	4 SubmittersRCV000036241 RCV000675126 RCV001275540
NM_000260.4(MYO7A):c.687C>T (p.Gly229=)	SNV Germline	Chr11:77156956	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive nonsyndromic hearing loss 2 Autosomal dominant nonsyndromic hearing loss 11 Usher syndrome type 1 Usher syndrome type 1B	Criteria Provided Conflicting Classifications	CA132447	rs_371142158	7 SubmittersRCV000036245 RCV000906062 RCV001109574 RCV001111838 RCV001111839 RCV001831646
NM_000260.4(MYO7A):c.722G>A (p.Arg241His)	SNV Germline	Chr11:77156991	Pathogenic/Likely pathogenic	Rare genetic deafness Inborn genetic diseases Hearing loss, autosomal recessive Condition: not provided Usher syndrome Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA278714	rs_111033284	7 SubmittersRCV000036247 RCV000622429 RCV001291466 RCV001852752 RCV003323371 RCV004814954
NM_000260.4(MYO7A):c.999T>G (p.Tyr333Ter)	SNV Germline	Chr11:77158426	Pathogenic	Rare genetic deafness Autosomal recessive nonsyndromic hearing loss 2 Condition: not provided Retinal dystrophy Usher syndrome type 1B Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1 Autosomal dominant nonsyndromic hearing loss 11	Criteria Provided Multiple Submitters No Conflicts	CA278716	rs_111033285	8 SubmittersRCV000036253 RCV000670120 RCV000421042 RCV001075598 RCV001275899 RCV005003429
NM_000260.4(MYO7A):c.3474C>T (p.Ile1158=)	SNV Germline	Chr11:77184686	Conflicting classifications of pathogenicity	not specified Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1 Condition: not provided Usher syndrome type 1 Autosomal recessive nonsyndromic hearing loss 2 Autosomal dominant nonsyndromic hearing loss 11 MYO7A-related disorder	Criteria Provided Conflicting Classifications	CA133236	rs_201834743	6 SubmittersRCV000036930 RCV000664754 RCV000910290 RCV001110261 RCV001110259 RCV001110260 RCV004734549
NM_022124.6(CDH23):c.2970C>T (p.Asp990=)	SNV Germline	Chr10:71706913	Conflicting classifications of pathogenicity	not specified Usher syndrome type 1D Autosomal recessive nonsyndromic hearing loss 12 Condition: not provided Usher syndrome type 1	Criteria Provided Conflicting Classifications	CA133595	rs_56216952	9 SubmittersRCV000037086 RCV000329264 RCV000381475 RCV000881810 RCV001831652
NM_022124.6(CDH23):c.1096G>A (p.Ala366Thr)	SNV Germline	Chr10:71617355	Conflicting classifications of pathogenicity	not specified Usher syndrome type 1D Condition: not provided Nonsyndromic genetic hearing loss Usher syndrome type 1 Autosomal recessive nonsyndromic hearing loss 12 Retinal dystrophy	Criteria Provided Conflicting Classifications	CA133607	rs_143282422	16 SubmittersRCV000037090 RCV001105079 RCV000513678 RCV001544539 RCV001826559 RCV001105080 RCV004814955
NM_015404.4(WHRN):c.1135C>T (p.Arg379Trp)	SNV Germline	Chr9:114426242	Conflicting classifications of pathogenicity	not specified Usher syndrome type 2D Condition: not provided Autosomal recessive nonsyndromic hearing loss 31	Criteria Provided Conflicting Classifications	CA136858	rs_56059137	8 SubmittersRCV000038859 RCV001165949 RCV000886961 RCV001165950
NM_015404.4(WHRN):c.1149C>T (p.Thr383=)	SNV Germline	Chr9:114426228	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2D Autosomal recessive nonsyndromic hearing loss 31	Criteria Provided Conflicting Classifications	CA136860	rs_149558159	5 SubmittersRCV000038860 RCV000898456 RCV001165945 RCV001165946
NM_015404.4(WHRN):c.1349G>A (p.Arg450His)	SNV Germline	Chr9:114424401	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive nonsyndromic hearing loss 31 Usher syndrome type 2D Autosomal recessive nonsyndromic hearing loss 31 Usher syndrome type 2D	Criteria Provided Conflicting Classifications	CA136870	rs_200377723	6 SubmittersRCV000038866 RCV001206517 RCV001168064 RCV001168063 RCV004720233
NM_015404.4(WHRN):c.1365T>C (p.Ser455=)	SNV Germline	Chr9:114424385	Conflicting classifications of pathogenicity	not specified Usher syndrome type 2D Autosomal recessive nonsyndromic hearing loss 31 Condition: not provided	Criteria Provided Conflicting Classifications	CA136878	rs_111033459	8 SubmittersRCV000038870 RCV000259971 RCV000361686 RCV000723649
NM_015404.4(WHRN):c.1454C>T (p.Pro485Leu)	SNV Germline	Chr9:114423486	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive nonsyndromic hearing loss 31 Usher syndrome type 2D	Criteria Provided Conflicting Classifications	CA136881	rs_79572315	8 SubmittersRCV000038872 RCV000888343 RCV001165874 RCV001165873
NM_015404.4(WHRN):c.1608C>G (p.Thr536=)	SNV Germline	Chr9:114423332	Conflicting classifications of pathogenicity	not specified Autosomal recessive nonsyndromic hearing loss 31 Usher syndrome type 2D Condition: not provided WHRN-related disorder	Criteria Provided Conflicting Classifications	CA136889	rs_139337135	6 SubmittersRCV000038876 RCV000344960 RCV000393005 RCV000897458 RCV004757957
NM_015404.4(WHRN):c.191C>A (p.Ala64Asp)	SNV Germline	Chr9:114504611	Conflicting classifications of pathogenicity	not specified Usher syndrome type 2D Autosomal recessive nonsyndromic hearing loss 31 Usher syndrome type 2D Autosomal recessive nonsyndromic hearing loss 31 Condition: not provided	Criteria Provided Conflicting Classifications	CA136900	rs_146655362	6 SubmittersRCV000038882 RCV000291435 RCV000346369 RCV000477861 RCV000723700
NM_015404.4(WHRN):c.2046G>C (p.Arg682=)	SNV Germline	Chr9:114406545	Conflicting classifications of pathogenicity	not specified Usher syndrome type 2D Autosomal recessive nonsyndromic hearing loss 31 Condition: not provided	Criteria Provided Conflicting Classifications	CA136902	rs_35258467	5 SubmittersRCV000038883 RCV000348525 RCV000393736 RCV000839194
NM_015404.4(WHRN):c.229A>T (p.Thr77Ser)	SNV Germline	Chr9:114504573	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive nonsyndromic hearing loss 31 Usher syndrome type 2D	Criteria Provided Conflicting Classifications	CA136910	rs_56204273	7 SubmittersRCV000038889 RCV000514950 RCV001167578 RCV001167579
NM_015404.4(WHRN):c.2354C>T (p.Thr785Ile)	SNV Germline	Chr9:114403960	Conflicting classifications of pathogenicity	not specified Autosomal recessive nonsyndromic hearing loss 31 Usher syndrome type 2D Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA136914	rs_201555289	5 SubmittersRCV000038891 RCV001169715 RCV001169716 RCV001204993 RCV004814959
NM_015404.4(WHRN):c.2439G>A (p.Thr813=)	SNV Germline	Chr9:114403319	Conflicting classifications of pathogenicity	not specified Usher syndrome type 2D Autosomal recessive nonsyndromic hearing loss 31 Condition: not provided	Criteria Provided Conflicting Classifications	CA136918	rs_61743618	5 SubmittersRCV000038893 RCV000305815 RCV000391031 RCV000839195
NM_015404.4(WHRN):c.33C>G (p.Ser11Arg)	SNV Germline	Chr9:114504769	Conflicting classifications of pathogenicity	not specified Condition: not provided Retinitis pigmentosa-deafness syndrome Autosomal recessive nonsyndromic hearing loss 31 Usher syndrome type 2D	Criteria Provided Conflicting Classifications	CA136922	rs_45527543	8 SubmittersRCV000038895 RCV000725335 RCV000988244 RCV001168207 RCV001168208
NM_015404.4(WHRN):c.667C>T (p.Arg223Cys)	SNV Germline	Chr9:114478723	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2D Autosomal recessive nonsyndromic hearing loss 31	Criteria Provided Conflicting Classifications	CA136926	rs_76593842	5 SubmittersRCV000038898 RCV000961958 RCV001166012 RCV001166013
NM_015404.4(WHRN):c.668G>A (p.Arg223His)	SNV Germline	Chr9:114478722	Conflicting classifications of pathogenicity	not specified Autosomal recessive nonsyndromic hearing loss 31 Usher syndrome type 2D Condition: not provided	Criteria Provided Conflicting Classifications	CA136928	rs_146273185	6 SubmittersRCV000038899 RCV000279685 RCV000316099 RCV000839182
NM_022124.6(CDH23):c.1068C>T (p.Ala356=)	SNV Germline	Chr10:71617327	Conflicting classifications of pathogenicity	not specified Autosomal recessive nonsyndromic hearing loss 12 Condition: not provided Usher syndrome type 1D	Criteria Provided Conflicting Classifications	CA137254	rs_141247813	4 SubmittersRCV000039093 RCV001105076 RCV000902946 RCV001105075
NM_022124.6(CDH23):c.1307G>A (p.Ser436Asn)	SNV Germline	Chr10:71646475	Conflicting classifications of pathogenicity	not specified Usher syndrome type 1D Autosomal recessive nonsyndromic hearing loss 12 Usher syndrome type 1 CDH23-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA137265	rs_111033369	13 SubmittersRCV000039099 RCV000264246 RCV000359188 RCV001826563 RCV004534821 RCV000755902
NM_022124.6(CDH23):c.1446C>A (p.Val482=)	SNV Germline	Chr10:71646614	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 1 CDH23-related disorder	Criteria Provided Conflicting Classifications	CA137274	rs_200324241	6 SubmittersRCV000039102 RCV000726725 RCV001275926 RCV004757116
NM_022124.6(CDH23):c.1472C>T (p.Thr491Ile)	SNV Germline	Chr10:71675134	Conflicting classifications of pathogenicity	not specified Autosomal recessive nonsyndromic hearing loss 12 Condition: not provided Usher syndrome type 1D	Criteria Provided Conflicting Classifications	CA137283	rs_397517307	5 SubmittersRCV000039106 RCV001103252 RCV001288115 RCV001103251
NM_022124.6(CDH23):c.1584C>T (p.Arg528=)	SNV Germline	Chr10:71677525	Conflicting classifications of pathogenicity	not specified Autosomal recessive nonsyndromic hearing loss 12 Usher syndrome type 1D Condition: not provided Usher syndrome type 1 CDH23-related disorder	Criteria Provided Conflicting Classifications	CA137291	rs_397517309	4 SubmittersRCV000039110 RCV000349509 RCV000388867 RCV000941887 RCV001831655 RCV004528186
NM_022124.6(CDH23):c.1637G>A (p.Arg546Gln)	SNV Germline	Chr10:71677578	Conflicting classifications of pathogenicity	not specified Condition: not provided CDH23-related disorder Inborn genetic diseases Usher syndrome type 1	Criteria Provided Conflicting Classifications	CA137295	rs_199508694	6 SubmittersRCV000039112 RCV001042981 RCV004757118 RCV003278657 RCV001826564
NM_022124.6(CDH23):c.1665C>T (p.Asn555=)	SNV Germline	Chr10:71677606	Conflicting classifications of pathogenicity	not specified Autosomal recessive nonsyndromic hearing loss 12 Usher syndrome type 1D Condition: not provided Usher syndrome type 1 CDH23-related disorder	Criteria Provided Conflicting Classifications	CA137297	rs_397517310	4 SubmittersRCV000039113 RCV000302283 RCV000357158 RCV001475080 RCV001831656 RCV004528187
NM_022124.6(CDH23):c.1814C>T (p.Ala605Val)	SNV Germline	Chr10:71679448	Conflicting classifications of pathogenicity	not specified Autosomal recessive nonsyndromic hearing loss 12 Usher syndrome type 1D Condition: not provided Usher syndrome type 1 Usher syndrome CDH23-related disorder	Criteria Provided Conflicting Classifications	CA137303	rs_201475055	9 SubmittersRCV000039116 RCV000285125 RCV000340118 RCV000882018 RCV001275932 RCV003389446 RCV004528188
NM_022124.6(CDH23):c.2239C>T (p.Arg747Cys)	SNV Germline	Chr10:71694209	Conflicting classifications of pathogenicity	not specified Usher syndrome type 1D Autosomal recessive nonsyndromic hearing loss 12 Condition: not provided Pituitary adenoma 5, multiple types Usher syndrome type 1 CDH23-related disorder	Criteria Provided Conflicting Classifications	CA137315	rs_200649500	13 SubmittersRCV000039123 RCV000283099 RCV000377652 RCV000755905 RCV001197523 RCV001275938 RCV004534824
NM_022124.6(CDH23):c.2337G>A (p.Lys779=)	SNV Germline	Chr10:71695465	Conflicting classifications of pathogenicity	not specified Autosomal recessive nonsyndromic hearing loss 12 Usher syndrome type 1D Condition: not provided Usher syndrome type 1 CDH23-related disorder	Criteria Provided Conflicting Classifications	CA137324	rs_111033461	7 SubmittersRCV000039128 RCV000270255 RCV000309836 RCV000888827 RCV001831658 RCV004528190
NM_022124.6(CDH23):c.2572G>A (p.Val858Ile)	SNV Germline	Chr10:71702196	Conflicting classifications of pathogenicity	not specified Autosomal recessive nonsyndromic hearing loss 12 Usher syndrome type 1D Condition: not provided Usher syndrome type 1 CDH23-related disorder VATER association	Criteria Provided Conflicting Classifications	CA137330	rs_181275139	10 SubmittersRCV000039131 RCV000294284 RCV000349179 RCV000887995 RCV001275943 RCV004534825 RCV005625228
NM_022124.6(CDH23):c.2830A>G (p.Ser944Gly)	SNV Germline	Chr10:71705007	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 1D Autosomal recessive nonsyndromic hearing loss 12 Usher syndrome type 1	Criteria Provided Conflicting Classifications	CA137338	rs_188098974	8 SubmittersRCV000039135 RCV000585571 RCV001106481 RCV001106482 RCV001831659
NM_022124.6(CDH23):c.2878G>A (p.Glu960Lys)	SNV Germline	Chr10:71705055	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive nonsyndromic hearing loss 12 Usher syndrome type 1D Usher syndrome type 1 CDH23-related disorder	Criteria Provided Conflicting Classifications	CA137342	rs_111033458	12 SubmittersRCV000039137 RCV000488332 RCV001106483 RCV001106484 RCV001272548 RCV004541122
NM_022124.6(CDH23):c.2891G>A (p.Arg964Gln)	SNV Germline	Chr10:71705068	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 1D Usher syndrome type 1 Autosomal recessive nonsyndromic hearing loss 12 CDH23-related disorder	Criteria Provided Conflicting Classifications	CA137344	rs_376560330	7 SubmittersRCV000039138 RCV000724091 RCV001106485 RCV001271854 RCV001106486 RCV004534827
NM_022124.6(CDH23):c.3074G>A (p.Gly1025Asp)	SNV Germline	Chr10:71707017	Conflicting classifications of pathogenicity	not specified Usher syndrome type 1 Childhood onset hearing loss Usher syndrome type 1D Autosomal recessive nonsyndromic hearing loss 12 Condition: not provided CDH23-related disorder	Criteria Provided Conflicting Classifications	CA137352	rs_143179070	13 SubmittersRCV000039141 RCV001272552 RCV001328026 RCV001105453 RCV001105454 RCV000839197 RCV004534828
NM_022124.6(CDH23):c.3133G>T (p.Val1045Leu)	SNV Germline	Chr10:71709124	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 1	Criteria Provided Conflicting Classifications	CA137358	rs_377100683	4 SubmittersRCV000039143 RCV001243389 RCV001826568
NM_022124.6(CDH23):c.3249G>A (p.Thr1083=)	SNV Germline	Chr10:71712693	Conflicting classifications of pathogenicity	not specified Usher syndrome type 1D Autosomal recessive nonsyndromic hearing loss 12 Condition: not provided Usher syndrome type 1	Criteria Provided Conflicting Classifications	CA137360	rs_79805606	7 SubmittersRCV000039144 RCV000325350 RCV000382245 RCV000967170 RCV001826569
NM_022124.6(CDH23):c.3262G>A (p.Val1088Met)	SNV Germline	Chr10:71712706	Conflicting classifications of pathogenicity	not specified Usher syndrome type 1D Autosomal recessive nonsyndromic hearing loss 12 Autosomal recessive nonsyndromic hearing loss 12 Usher syndrome type 1D Pituitary adenoma 5, multiple types Condition: not provided Usher syndrome type 1 CDH23-related disorder	Criteria Provided Conflicting Classifications	CA137362	rs_200632520	10 SubmittersRCV000039145 RCV000324074 RCV000376393 RCV000764914 RCV001041387 RCV001271862 RCV004528191
NM_022124.6(CDH23):c.3331G>A (p.Val1111Ile)	SNV Germline	Chr10:71712775	Conflicting classifications of pathogenicity	not specified Usher syndrome type 1D Condition: not provided Autosomal recessive nonsyndromic hearing loss 12 CDH23-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA137366	rs_397517321	7 SubmittersRCV000039147 RCV000280070 RCV000487639 RCV000406184 RCV004528192 RCV003242971
NM_022124.6(CDH23):c.3361A>T (p.Ile1121Phe)	SNV Germline	Chr10:71712805	Conflicting classifications of pathogenicity	not specified Condition: not provided Retinal dystrophy Usher syndrome type 1	Criteria Provided Conflicting Classifications	CA137370	rs_200542052	7 SubmittersRCV000039149 RCV000724083 RCV001075026 RCV001272560
NM_022124.6(CDH23):c.3364T>G (p.Leu1122Val)	SNV Germline	Chr10:71712808	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 1D Autosomal recessive nonsyndromic hearing loss 12 Usher syndrome type 1	Criteria Provided Conflicting Classifications	CA137372	rs_77821631	6 SubmittersRCV000039150 RCV000965142 RCV001103613 RCV001103614 RCV001831660
NM_022124.6(CDH23):c.3397G>A (p.Glu1133Lys)	SNV Germline	Chr10:71724072	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 1 Pituitary adenoma 5, multiple types Autosomal recessive nonsyndromic hearing loss 12 Usher syndrome type 1D Pituitary adenoma 5, multiple types	Criteria Provided Conflicting Classifications	CA137374	rs_111033509	5 SubmittersRCV000039151 RCV001056228 RCV001272885 RCV002483003 RCV003473275
NM_022124.6(CDH23):c.3480G>T (p.Met1160Ile)	SNV Germline	Chr10:71725421	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 1D Autosomal recessive nonsyndromic hearing loss 12	Criteria Provided Conflicting Classifications	CA137376	rs_111033519	5 SubmittersRCV000039152 RCV000891539 RCV001105553 RCV001105554
NM_022124.6(CDH23):c.3574G>A (p.Val1192Ile)	SNV Germline	Chr10:71725515	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 1D Autosomal recessive nonsyndromic hearing loss 12 Usher syndrome type 1	Criteria Provided Conflicting Classifications	CA137382	rs_80028391	5 SubmittersRCV000039156 RCV000886092 RCV001106699 RCV001105557 RCV001826570
NM_022124.6(CDH23):c.3619G>A (p.Val1207Met)	SNV Germline	Chr10:71730508	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 1D Autosomal recessive nonsyndromic hearing loss 12 Usher syndrome type 1	Criteria Provided Conflicting Classifications	CA137385	rs_111033488	6 SubmittersRCV000039158 RCV000968181 RCV001108864 RCV001108865 RCV001272887
NM_022124.6(CDH23):c.3801C>T (p.Thr1267=)	SNV Germline	Chr10:71732072	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive nonsyndromic hearing loss 12 Usher syndrome type 1D Usher syndrome type 1	Criteria Provided Conflicting Classifications	CA137393	rs_56107171	9 SubmittersRCV000039164 RCV000723699 RCV001103709 RCV001103710 RCV001272566
NM_022124.6(CDH23):c.3845A>G (p.Asn1282Ser)	SNV Germline	Chr10:71732116	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive nonsyndromic hearing loss 12 Usher syndrome type 1D Usher syndrome type 1 Meniere disease	Criteria Provided Conflicting Classifications	CA137396	rs_149073355	11 SubmittersRCV000039165 RCV000950191 RCV001103711 RCV001103712 RCV001272567 RCV001797050
NM_022124.6(CDH23):c.3895G>A (p.Val1299Ile)	SNV Germline	Chr10:71732166	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 1D Autosomal recessive nonsyndromic hearing loss 12	Criteria Provided Conflicting Classifications	CA137399	rs_201610096	4 SubmittersRCV000039166 RCV001044674 RCV001105662 RCV001105663
NM_022124.6(CDH23):c.3999G>A (p.Val1333=)	SNV Germline	Chr10:71732270	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 1D Autosomal recessive nonsyndromic hearing loss 12 Usher syndrome type 1	Criteria Provided Conflicting Classifications	CA137408	rs_111033453	8 SubmittersRCV000039169 RCV000885396 RCV001105667 RCV001105666 RCV001831664
NM_022124.6(CDH23):c.4045C>T (p.Arg1349Cys)	SNV Germline	Chr10:71732316	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 1D Autosomal recessive nonsyndromic hearing loss 12 Usher syndrome type 1 CDH23-related disorder Intellectual disability	Criteria Provided Conflicting Classifications	CA137411	rs_41281318	9 SubmittersRCV000039170 RCV000892452 RCV001106789 RCV001106790 RCV001831665 RCV004534830 RCV005625229
NM_022124.6(CDH23):c.4068C>G (p.Thr1356=)	SNV Germline	Chr10:71732339	Conflicting classifications of pathogenicity	not specified Autosomal recessive nonsyndromic hearing loss 12 Usher syndrome type 1D Condition: not provided Usher syndrome type 1	Criteria Provided Conflicting Classifications	CA137416	rs_143136329	8 SubmittersRCV000039172 RCV000358294 RCV000305911 RCV000827160 RCV001831666
NM_022124.6(CDH23):c.4309C>T (p.Arg1437Ter)	SNV Germline	Chr10:71738597	Pathogenic	Rare genetic deafness Condition: not provided Autosomal recessive nonsyndromic hearing loss 12 Usher syndrome type 1D Pituitary adenoma 5, multiple types Pituitary adenoma 5, multiple types Usher syndrome type 1	Criteria Provided Multiple Submitters No Conflicts	CA261782	rs_397517329	6 SubmittersRCV000039177 RCV000438508 RCV000763214 RCV003473277 RCV001831667
NM_022124.6(CDH23):c.4391C>T (p.Ala1464Val)	SNV Germline	Chr10:71739675	Conflicting classifications of pathogenicity	not specified Autosomal recessive nonsyndromic hearing loss 12 Usher syndrome type 1D Pituitary adenoma 5, multiple types Usher syndrome type 1D Autosomal recessive nonsyndromic hearing loss 12 Condition: not provided Usher syndrome type 1 CDH23-related disorder	Criteria Provided Conflicting Classifications	CA137429	rs_374362883	9 SubmittersRCV000039181 RCV000764918 RCV001106862 RCV001106861 RCV001244548 RCV001273543 RCV004757121
NM_022124.6(CDH23):c.4498T>A (p.Ser1500Thr)	SNV Germline	Chr10:71740831	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA137431	rs_375641853	4 SubmittersRCV000039182 RCV001246417 RCV001826571 RCV005318317
NM_022124.6(CDH23):c.460G>A (p.Val154Met)	SNV Germline	Chr10:71566772	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA137437	rs_199741966	5 SubmittersRCV000039185 RCV001047099 RCV001826572 RCV002513527
NM_022124.6(CDH23):c.4620C>T (p.Asn1540=)	SNV Germline	Chr10:71741696	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 1	Criteria Provided Conflicting Classifications	CA137440	rs_111033490	4 SubmittersRCV000039187 RCV000724264 RCV001272898
NM_022124.6(CDH23):c.4842G>C (p.Leu1614=)	SNV Germline	Chr10:71741918	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive nonsyndromic hearing loss 12 CDH23-related disorder Usher syndrome type 1D	Criteria Provided Conflicting Classifications	CA137444	rs_368377560	7 SubmittersRCV000039190 RCV000915057 RCV001104195 RCV004534831 RCV001104194
NM_022124.6(CDH23):c.5009T>A (p.Val1670Asp)	SNV Germline	Chr10:71777843	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 1 Autosomal recessive nonsyndromic hearing loss 12 Usher syndrome type 1D Pituitary adenoma 5, multiple types	Criteria Provided Conflicting Classifications	CA137450	rs_397517333	5 SubmittersRCV000039193 RCV001039006 RCV001273551 RCV005042113
NM_022124.6(CDH23):c.5026G>A (p.Ala1676Thr)	SNV Germline	Chr10:71777860	Conflicting classifications of pathogenicity	not specified Usher syndrome type 1D Autosomal recessive nonsyndromic hearing loss 12 Condition: not provided Usher syndrome type 1	Criteria Provided Conflicting Classifications	CA137454	rs_56043301	8 SubmittersRCV000039195 RCV000265777 RCV000365175 RCV000843702 RCV001826573
NM_022124.6(CDH23):c.5050C>T (p.Arg1684Cys)	SNV Germline	Chr10:71777884	Conflicting classifications of pathogenicity	not specified Usher syndrome type 1D Autosomal recessive nonsyndromic hearing loss 12 Condition: not provided Usher syndrome type 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA137456	rs_111033522	6 SubmittersRCV000039196 RCV000317490 RCV000372199 RCV000723750 RCV001273552 RCV002513528
NM_022124.6(CDH23):c.5066T>C (p.Met1689Thr)	SNV Germline	Chr10:71777900	Conflicting classifications of pathogenicity	not specified Autosomal recessive nonsyndromic hearing loss 12 Usher syndrome type 1D Autosomal recessive nonsyndromic hearing loss 12 Usher syndrome type 1D Condition: not provided Usher syndrome type 1	Criteria Provided Conflicting Classifications	CA137460	rs_397517334	8 SubmittersRCV000039198 RCV000281904 RCV000318225 RCV000844910 RCV000912043 RCV001272904
NM_022124.6(CDH23):c.510C>T (p.Ser170=)	SNV Germline	Chr10:71566822	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 1D Autosomal recessive nonsyndromic hearing loss 12 Usher syndrome type 1	Criteria Provided Conflicting Classifications	CA137464	rs_143341423	9 SubmittersRCV000039200 RCV000899865 RCV001103057 RCV001104970 RCV001276801
NM_022124.6(CDH23):c.5130C>A (p.Ile1710=)	SNV Germline	Chr10:71778251	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 1	Criteria Provided Conflicting Classifications	CA137466	rs_111033487	5 SubmittersRCV000039201 RCV000723698 RCV001273554
NM_022124.6(CDH23):c.5272C>T (p.Gln1758Ter)	SNV Germline	Chr10:71779351	Likely pathogenic	Rare genetic deafness Autosomal recessive nonsyndromic hearing loss 12 Usher syndrome type 1D Pituitary adenoma 5, multiple types	Criteria Provided Single Submitter	CA261785	rs_397517337	2 SubmittersRCV000039207 RCV005042114
NM_022124.6(CDH23):c.5297T>C (p.Phe1766Ser)	SNV Germline	Chr10:71779376	Conflicting classifications of pathogenicity	not specified Usher syndrome type 1D Autosomal recessive nonsyndromic hearing loss 12 Condition: not provided Usher syndrome type 1 CDH23-related disorder	Criteria Provided Conflicting Classifications	CA137475	rs_114745089	6 SubmittersRCV000039208 RCV000260759 RCV000297276 RCV000755231 RCV001273557 RCV004528193
NM_022124.6(CDH23):c.5410C>T (p.Arg1804Trp)	SNV Germline	Chr10:71784328	Conflicting classifications of pathogenicity	not specified Autosomal recessive nonsyndromic hearing loss 12 Usher syndrome type 1D Pituitary adenoma 5, multiple types Condition: not provided Usher syndrome type 1	Criteria Provided Conflicting Classifications	CA137483	rs_376271562	5 SubmittersRCV000039212 RCV000764919 RCV000882752 RCV001273560
NM_022124.6(CDH23):c.5523G>A (p.Val1841=)	SNV Germline	Chr10:71784911	Conflicting classifications of pathogenicity	not specified Autosomal recessive nonsyndromic hearing loss 12 Usher syndrome type 1D Condition: not provided	Criteria Provided Conflicting Classifications	CA137496	rs_369513655	3 SubmittersRCV000039219 RCV001104395 RCV001104396 RCV001425718
NM_022124.6(CDH23):c.5544C>T (p.Asp1848=)	SNV Germline	Chr10:71784932	Conflicting classifications of pathogenicity	not specified Autosomal recessive nonsyndromic hearing loss 12 Usher syndrome type 1D Condition: not provided Usher syndrome type 1	Criteria Provided Conflicting Classifications	CA137500	rs_142131750	11 SubmittersRCV000039221 RCV000298083 RCV000403406 RCV000839604 RCV001275561
NM_022124.6(CDH23):c.5712G>A (p.Thr1904=)	SNV Germline	Chr10:71785100	Pathogenic/Likely pathogenic	Rare genetic deafness Usher syndrome type 1 Condition: not provided CDH23-related disorder Pituitary adenoma 5, multiple types	Criteria Provided Multiple Submitters No Conflicts	CA261788	rs_397517342	5 SubmittersRCV000039224 RCV001826574 RCV001852822 RCV004534833 RCV003473279
NM_022124.6(CDH23):c.5734C>T (p.Arg1912Trp)	SNV Germline	Chr10:71785652	Conflicting classifications of pathogenicity	not specified Condition: not provided Hearing impairment Usher syndrome type 1	Criteria Provided Conflicting Classifications	CA137505	rs_397517344	4 SubmittersRCV000039226 RCV001241540 RCV001375123 RCV001826575
NM_022124.6(CDH23):c.5753G>A (p.Arg1918Gln)	SNV Germline	Chr10:71785671	Conflicting classifications of pathogenicity	not specified Usher syndrome type 1D Autosomal recessive nonsyndromic hearing loss 12 Condition: not provided Usher syndrome type 1 CDH23-related disorder Cone-rod dystrophy	Criteria Provided Conflicting Classifications	CA137507	rs_115113440	8 SubmittersRCV000039227 RCV000271728 RCV000325842 RCV000905205 RCV001275564 RCV004528194 RCV005625230
NM_022124.6(CDH23):c.5831T>C (p.Leu1944Ser)	SNV Germline	Chr10:71788950	Conflicting classifications of pathogenicity	not specified Usher syndrome type 1 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA137509	rs_201876362	5 SubmittersRCV000039228 RCV001835650 RCV002513530 RCV004975268
NM_022124.6(CDH23):c.5937G>A (p.Thr1979=)	SNV Germline	Chr10:71790301	Conflicting classifications of pathogenicity	not specified Usher syndrome type 1D Condition: not provided Autosomal recessive nonsyndromic hearing loss 12	Criteria Provided Conflicting Classifications	CA137513	rs_397517347	3 SubmittersRCV000039231 RCV001104488 RCV000982067 RCV001104487
NM_022124.6(CDH23):c.6026T>A (p.Leu2009His)	SNV Germline	Chr10:71790390	Conflicting classifications of pathogenicity	not specified Usher syndrome type 1 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA137517	rs_201067092	5 SubmittersRCV000039233 RCV001826576 RCV004975269 RCV002513531
NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser)	SNV Germline	Chr10:71790413	Pathogenic/Likely pathogenic	Rare genetic deafness Autosomal recessive nonsyndromic hearing loss 12 Usher syndrome type 1D Pituitary adenoma 5, multiple types Condition: not provided Pituitary adenoma 5, multiple types Usher syndrome type 1D CDH23-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA261792	rs_183431253	9 SubmittersRCV000039235 RCV000763216 RCV001377826 RCV003473280 RCV001376240 RCV004757122
NM_022124.6(CDH23):c.6050-9G>A	SNV Germline	Chr10:71791123	Pathogenic	Rare genetic deafness Condition: not provided Autosomal recessive nonsyndromic hearing loss 12 Usher syndrome type 1D Pituitary adenoma 5, multiple types Usher syndrome type 1 Hearing loss, autosomal recessive Pituitary adenoma 5, multiple types Usher syndrome type 1D CDH23-related disorder Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA261794	rs_367928692	15 SubmittersRCV000039236 RCV000239237 RCV000763217 RCV001274898 RCV001291215 RCV003473281 RCV005252711 RCV004757123 RCV004814961
NM_022124.6(CDH23):c.6426A>G (p.Leu2142=)	SNV Germline	Chr10:71793354	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 1 CDH23-related disorder	Criteria Provided Conflicting Classifications	CA137533	rs_371932558	6 SubmittersRCV000039245 RCV000723748 RCV001275575 RCV004534835
NM_022124.6(CDH23):c.6489G>C (p.Leu2163=)	SNV Germline	Chr10:71793417	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 1	Criteria Provided Conflicting Classifications	CA137535	rs_111033493	4 SubmittersRCV000039247 RCV000724265 RCV001831670
NM_022124.6(CDH23):c.6648C>T (p.Ala2216=)	SNV Germline	Chr10:71793576	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 1D Usher syndrome type 1 Autosomal recessive nonsyndromic hearing loss 12	Criteria Provided Conflicting Classifications	CA137543	rs_186394654	8 SubmittersRCV000039251 RCV000488048 RCV001107333 RCV001275577 RCV001104587
NM_022124.6(CDH23):c.6687C>T (p.Asp2229=)	SNV Germline	Chr10:71793615	Conflicting classifications of pathogenicity	not specified Autosomal recessive nonsyndromic hearing loss 12 Condition: not provided Usher syndrome type 1D Usher syndrome type 1	Criteria Provided Conflicting Classifications	CA137545	rs_76463072	6 SubmittersRCV000039252 RCV001107337 RCV000888828 RCV001107336 RCV001826578
NM_022124.6(CDH23):c.6705C>T (p.Ile2235=)	SNV Germline	Chr10:71793633	Conflicting classifications of pathogenicity	not specified Autosomal recessive nonsyndromic hearing loss 12 Usher syndrome type 1D Condition: not provided Usher syndrome type 1 CDH23-related disorder	Criteria Provided Conflicting Classifications	CA137548	rs_114827737	7 SubmittersRCV000039254 RCV000351184 RCV000391735 RCV000905206 RCV001274904 RCV004528195
NM_022124.6(CDH23):c.6852G>C (p.Leu2284=)	SNV Germline	Chr10:71798376	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 1D Autosomal recessive nonsyndromic hearing loss 12 Usher syndrome type 1	Criteria Provided Conflicting Classifications	CA137552	rs_56013867	11 SubmittersRCV000039256 RCV000968472 RCV001107987 RCV001107988 RCV001831671
NM_022124.6(CDH23):c.6911G>A (p.Arg2304Gln)	SNV Germline	Chr10:71798435	Conflicting classifications of pathogenicity	not specified Usher syndrome type 1D Autosomal recessive nonsyndromic hearing loss 12 Autosomal recessive nonsyndromic hearing loss 12 Usher syndrome type 1D Pituitary adenoma 5, multiple types Usher syndrome type 1 Condition: not provided CDH23-related disorder	Criteria Provided Conflicting Classifications	CA137554	rs_201434373	9 SubmittersRCV000039257 RCV000260501 RCV000353028 RCV000764921 RCV001275584 RCV001244627 RCV004528196
NM_022124.6(CDH23):c.6918G>A (p.Leu2306=)	SNV Germline	Chr10:71798442	Conflicting classifications of pathogenicity	not specified Usher syndrome type 1D Autosomal recessive nonsyndromic hearing loss 12 Condition: not provided Usher syndrome type 1	Criteria Provided Conflicting Classifications	CA137556	rs_146819206	10 SubmittersRCV000039258 RCV001108605 RCV001107989 RCV000881386 RCV001831672
NM_022124.6(CDH23):c.6990G>T (p.Leu2330=)	SNV Germline	Chr10:71798514	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive nonsyndromic hearing loss 12 Usher syndrome type 1D Usher syndrome type 1	Criteria Provided Conflicting Classifications	CA137558	rs_111033495	7 SubmittersRCV000039260 RCV000840098 RCV001102754 RCV001102755 RCV001831674
NM_022124.6(CDH23):c.7362G>A (p.Thr2454=)	SNV Germline	Chr10:71799629	Pathogenic/Likely pathogenic	Rare genetic deafness Condition: not provided Usher syndrome type 1 Pituitary adenoma 5, multiple types Usher syndrome type 1D Usher syndrome Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA261797	rs_370983472	9 SubmittersRCV000039265 RCV000483242 RCV001274911 RCV003473284 RCV002250505 RCV003330411 RCV004814962
NM_022124.6(CDH23):c.7468G>A (p.Glu2490Lys)	SNV Germline	Chr10:71800741	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 1D Autosomal recessive nonsyndromic hearing loss 12 Pituitary adenoma 5, multiple types Autosomal recessive nonsyndromic hearing loss 12 Usher syndrome type 1D Usher syndrome type 1	Criteria Provided Conflicting Classifications	CA137571	rs_41281336	14 SubmittersRCV000039268 RCV000725960 RCV000763667 RCV001108080 RCV001108081 RCV001276040
NM_022124.6(CDH23):c.7630T>C (p.Leu2544=)	SNV Germline	Chr10:71803045	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 1D Autosomal recessive nonsyndromic hearing loss 12 Usher syndrome type 1	Criteria Provided Conflicting Classifications	CA137579	rs_114819374	9 SubmittersRCV000039272 RCV000515005 RCV001102866 RCV001102865 RCV001831675
NM_022124.6(CDH23):c.7722C>T (p.Tyr2574=)	SNV Germline	Chr10:71803270	Conflicting classifications of pathogenicity	not specified Autosomal recessive nonsyndromic hearing loss 12 Usher syndrome type 1D Condition: not provided Usher syndrome type 1	Criteria Provided Conflicting Classifications	CA137581	rs_111033483	9 SubmittersRCV000039273 RCV000286793 RCV000378798 RCV000879301 RCV001831676
NM_022124.6(CDH23):c.7762G>C (p.Glu2588Gln)	SNV Germline	Chr10:71803310	Conflicting classifications of pathogenicity	not specified Autosomal recessive nonsyndromic hearing loss 12 Usher syndrome type 1D Usher syndrome type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA137583	rs_41281338	7 SubmittersRCV000039274 RCV001104790 RCV001104789 RCV001826580 RCV001522497
NM_022124.6(CDH23):c.7776G>A (p.Trp2592Ter)	SNV Germline	Chr10:71803324	Pathogenic	Rare genetic deafness Condition: not provided Usher syndrome type 1D	Criteria Provided Multiple Submitters No Conflicts	CA261799	rs_397517353	4 SubmittersRCV000039275 RCV001382458 RCV005252712
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His)	SNV Germline	Chr10:71803371	Conflicting classifications of pathogenicity	not specified Retinitis pigmentosa-deafness syndrome Condition: not provided Autosomal recessive nonsyndromic hearing loss 12 Usher syndrome type 1D Autosomal recessive nonsyndromic hearing loss 12 Rare genetic deafness Retinal dystrophy Neurodevelopmental abnormality Usher syndrome type 1D Pituitary adenoma 5, multiple types	Criteria Provided Conflicting Classifications	CA261801	rs_202052174	18 SubmittersRCV000039276 RCV000988383 RCV000725220 RCV001559300 RCV003483451 RCV004017329 RCV004814963 RCV001264702 RCV001374881 RCV003473285
NM_022124.6(CDH23):c.8022G>A (p.Gln2674=)	SNV Germline	Chr10:71805955	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive nonsyndromic hearing loss 12 Usher syndrome type 1 CDH23-related disorder Usher syndrome type 1D	Criteria Provided Conflicting Classifications	CA137587	rs_201733315	9 SubmittersRCV000039279 RCV000488300 RCV001105928 RCV001276915 RCV004534836 RCV001105927
NM_022124.6(CDH23):c.8167G>C (p.Val2723Leu)	SNV Germline	Chr10:71806270	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 1 Usher syndrome type 1D Autosomal recessive nonsyndromic hearing loss 12	Criteria Provided Conflicting Classifications	CA137590	rs_142857685	8 SubmittersRCV000039281 RCV000725935 RCV001276044 RCV001108161 RCV001108162
NM_022124.6(CDH23):c.8407G>A (p.Val2803Ile)	SNV Germline	Chr10:71807614	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA137596	rs_369697366	5 SubmittersRCV000039284 RCV001243714 RCV001276919 RCV002513536
NM_022124.6(CDH23):c.8859C>T (p.Asp2953=)	SNV Germline	Chr10:71809956	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive nonsyndromic hearing loss 12 Usher syndrome type 1D Usher syndrome type 1	Criteria Provided Conflicting Classifications	CA137611	rs_11000008	6 SubmittersRCV000039293 RCV000899993 RCV001106039 RCV001106040 RCV001831678
NM_022124.6(CDH23):c.8980-12C>T	SNV Germline	Chr10:71810460	Conflicting classifications of pathogenicity	not specified Autosomal recessive nonsyndromic hearing loss 12 Usher syndrome type 1D Condition: not provided	Criteria Provided Conflicting Classifications	CA137619	rs_111583276	5 SubmittersRCV000039297 RCV000319834 RCV000367576 RCV000839180
NM_022124.6(CDH23):c.8980-14C>A	SNV Germline	Chr10:71810458	Conflicting classifications of pathogenicity	not specified Usher syndrome type 1D Condition: not provided Autosomal recessive nonsyndromic hearing loss 12	Criteria Provided Conflicting Classifications	CA137620	rs_45522532	7 SubmittersRCV000039298 RCV001104974 RCV001513504 RCV001104975
NM_022124.6(CDH23):c.9015G>A (p.Ala3005=)	SNV Germline	Chr10:71810507	Conflicting classifications of pathogenicity	not specified Autosomal recessive nonsyndromic hearing loss 12 Usher syndrome type 1D Condition: not provided Usher syndrome type 1	Criteria Provided Conflicting Classifications	CA137625	rs_376497158	7 SubmittersRCV000039301 RCV000380915 RCV000288750 RCV000879426 RCV001276924
NM_022124.6(CDH23):c.9077+7C>T	SNV Germline	Chr10:71810576	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive nonsyndromic hearing loss 12 Usher syndrome type 1D	Criteria Provided Conflicting Classifications	CA137629	rs_76114420	8 SubmittersRCV000039303 RCV000839177 RCV001106135 RCV001106136
NM_022124.6(CDH23):c.9670C>T (p.Arg3224Trp)	SNV Germline	Chr10:71813280	Conflicting classifications of pathogenicity	not specified Autosomal recessive nonsyndromic hearing loss 12 Usher syndrome type 1D Condition: not provided Usher syndrome type 1 CDH23-related disorder Retinal dystrophy	Criteria Provided Conflicting Classifications	CA137645	rs_111033457	12 SubmittersRCV000039315 RCV000286542 RCV000341398 RCV000725356 RCV001272665 RCV004528199 RCV004814964
NM_032119.4(ADGRV1):c.10260C>T (p.Phe3420=)	SNV Germline	Chr5:90728767	Conflicting classifications of pathogenicity	not specified Usher syndrome type 2C Condition: not provided	Criteria Provided Conflicting Classifications	CA137987	rs_113938044	9 SubmittersRCV000039502 RCV001152997 RCV000724542
NM_032119.4(ADGRV1):c.12476A>C (p.His4159Pro)	SNV Germline	Chr5:90776525	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2C ADGRV1-related disorder	Criteria Provided Conflicting Classifications	CA138011	rs_200805176	4 SubmittersRCV000039516 RCV000888279 RCV001157416 RCV004549459
NM_032119.4(ADGRV1):c.12586C>T (p.Pro4196Ser)	SNV Germline	Chr5:90777963	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2C	Criteria Provided Conflicting Classifications	CA138013	rs_397517420	3 SubmittersRCV000039517 RCV001042748 RCV001157422
NM_032119.4(ADGRV1):c.14973-2A>G	SNV Germline	Chr5:90810231	Pathogenic/Likely pathogenic	Rare genetic deafness Condition: not provided Retinal dystrophy Usher syndrome type 2 Usher syndrome type 2C Usher syndrome Febrile seizures, familial, 4 Usher syndrome type 2C	Criteria Provided Multiple Submitters No Conflicts	CA261833	rs_371981035	8 SubmittersRCV000039531 RCV001041197 RCV001073981 RCV001002859 RCV004786311 RCV003155052 RCV005031476
NM_032119.4(ADGRV1):c.15471C>T (p.Ser5157=)	SNV Germline	Chr5:90810731	Conflicting classifications of pathogenicity	not specified Retinal dystrophy Condition: not provided Usher syndrome type 2C	Criteria Provided Conflicting Classifications	CA138045	rs_146082509	6 SubmittersRCV000039535 RCV001074477 RCV000909162 RCV001153321
NM_032119.4(ADGRV1):c.15608A>G (p.Glu5203Gly)	SNV Germline	Chr5:90810868	Conflicting classifications of pathogenicity	not specified Condition: not provided Inborn genetic diseases Usher syndrome type 2C	Criteria Provided Conflicting Classifications	CA138047	rs_202106463	9 SubmittersRCV000039536 RCV000724510 RCV002513548 RCV001155929
NM_032119.4(ADGRV1):c.1718G>T (p.Gly573Val)	SNV Germline	Chr5:90629418	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2 Usher syndrome type 2C Idiopathic generalized epilepsy Febrile seizures, familial, 4 ADGRV1-related disorder	Criteria Provided Conflicting Classifications	CA138067	rs_200789563	12 SubmittersRCV000039546 RCV000513285 RCV001002855 RCV001152886 RCV001839409 RCV004527308 RCV004724764
NM_032119.4(ADGRV1):c.1776C>A (p.Val592=)	SNV Germline	Chr5:90629476	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2C	Criteria Provided Conflicting Classifications	CA138071	rs_184127858	6 SubmittersRCV000039549 RCV000725953 RCV001152887
NM_032119.4(ADGRV1):c.17920G>T (p.Ala5974Ser)	SNV Germline	Chr5:90965478	Conflicting classifications of pathogenicity	not specified Condition: not provided Inborn genetic diseases Usher syndrome type 2	Criteria Provided Conflicting Classifications	CA138074	rs_397517427	6 SubmittersRCV000039551 RCV000732044 RCV002513549 RCV005357274
NM_032119.4(ADGRV1):c.2398C>T (p.Arg800Ter)	SNV Germline	Chr5:90642886	Pathogenic	Rare genetic deafness Usher syndrome type 2C Febrile seizures, familial, 4 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA261835	rs_373780305	4 SubmittersRCV000039562 RCV000763549 RCV001582516
NM_032119.4(ADGRV1):c.3151G>T (p.Asp1051Tyr)	SNV Germline	Chr5:90647626	Conflicting classifications of pathogenicity	not specified Febrile seizures, familial, 4 Condition: not provided Usher syndrome type 2C ADGRV1-related disorder Intellectual disability	Criteria Provided Conflicting Classifications	CA138096	rs_145556097	10 SubmittersRCV000039567 RCV000146076 RCV000954913 RCV001151210 RCV004549463 RCV005625231
NM_032119.4(ADGRV1):c.3191A>C (p.Glu1064Ala)	SNV Germline	Chr5:90647666	Conflicting classifications of pathogenicity	not specified Febrile seizures, familial, 4 Condition: not provided Usher syndrome type 2C Retinitis pigmentosa ADGRV1-related disorder Intellectual disability	Criteria Provided Conflicting Classifications	CA138098	rs_190922596	11 SubmittersRCV000039568 RCV000146077 RCV000954914 RCV001151213 RCV003389449 RCV004549464 RCV005625232
NM_032119.4(ADGRV1):c.3443G>A (p.Gly1148Asp)	SNV Germline	Chr5:90652372	Conflicting classifications of pathogenicity	not specified Retinal dystrophy Condition: not provided Usher syndrome Usher syndrome type 2C Usher syndrome type 2C Febrile seizures, familial, 4 Usher syndrome type 2 ADGRV1-related disorder	Criteria Provided Conflicting Classifications	CA138106	rs_200945405	13 SubmittersRCV000039572 RCV001075536 RCV000710447 RCV000504767 RCV001154289 RCV005031477 RCV005357275 RCV004737179
NM_032119.4(ADGRV1):c.3509A>G (p.Tyr1170Cys)	SNV Germline	Chr5:90652438	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2C Febrile seizures, familial, 4 Usher syndrome type 2C	Criteria Provided Conflicting Classifications	CA138110	rs_188772875	10 SubmittersRCV000039574 RCV000514418 RCV000764614 RCV001155118
NM_032119.4(ADGRV1):c.3775T>A (p.Ser1259Thr)	SNV Germline	Chr5:90653349	Conflicting classifications of pathogenicity	not specified Usher syndrome type 2C Febrile seizures, familial, 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA138114	rs_376900429	3 SubmittersRCV000039576 RCV000764615 RCV001852825
NM_032119.4(ADGRV1):c.4032C>T (p.Tyr1344=)	SNV Germline	Chr5:90653606	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2C	Criteria Provided Conflicting Classifications	CA138118	rs_376636949	6 SubmittersRCV000039578 RCV000723656 RCV001156784
NM_032119.4(ADGRV1):c.4119G>A (p.Ala1373=)	SNV Germline	Chr5:90653693	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2C	Criteria Provided Conflicting Classifications	CA138122	rs_111033484	4 SubmittersRCV000039580 RCV000902347 RCV001156786
NM_032119.4(ADGRV1):c.4214C>T (p.Ser1405Phe)	SNV Germline	Chr5:90653788	Conflicting classifications of pathogenicity	not specified Condition: not provided ADGRV1-related disorder Retinal dystrophy Usher syndrome type 2C	Criteria Provided Conflicting Classifications	CA138124	rs_41305898	10 SubmittersRCV000039581 RCV000723975 RCV004549466 RCV004814966 RCV001151335
NM_032119.4(ADGRV1):c.5221T>C (p.Leu1741=)	SNV Germline	Chr5:90675353	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2C	Criteria Provided Conflicting Classifications	CA138139	rs_371831553	10 SubmittersRCV000039589 RCV000728019 RCV001155220
NM_032119.4(ADGRV1):c.5576A>G (p.His1859Arg)	SNV Germline	Chr5:90681366	Conflicting classifications of pathogenicity	not specified Usher syndrome type 2C Febrile seizures, familial, 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA138147	rs_200974394	3 SubmittersRCV000039594 RCV000765842 RCV001423929
NM_032119.4(ADGRV1):c.5785G>T (p.Ala1929Ser)	SNV Germline	Chr5:90683706	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2C Usher syndrome type 2 Retinal dystrophy	Criteria Provided Conflicting Classifications	CA138151	rs_41311335	8 SubmittersRCV000039596 RCV000723976 RCV001151458 RCV005357276 RCV004814967
NM_032119.4(ADGRV1):c.6317C>T (p.Ala2106Val)	SNV Germline	Chr5:90685822	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2C ADGRV1-related disorder	Criteria Provided Conflicting Classifications	CA138173	rs_186999408	10 SubmittersRCV000039607 RCV000903694 RCV001155314 RCV004549469
NM_032119.4(ADGRV1):c.6994A>T (p.Ile2332Phe)	SNV Germline	Chr5:90692647	Conflicting classifications of pathogenicity	not specified Usher syndrome type 2C Condition: not provided ADGRV1-related disorder	Criteria Provided Conflicting Classifications	CA138188	rs_193030567	10 SubmittersRCV000039615 RCV000987537 RCV000725221 RCV004737181
NM_032119.4(ADGRV1):c.7468G>A (p.Ala2490Thr)	SNV Germline	Chr5:90694224	Conflicting classifications of pathogenicity	not specified Condition: not provided Febrile seizures, familial, 4 Usher syndrome type 2C Usher syndrome type 2C Febrile seizures, familial, 4 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA138212	rs_143632883	7 SubmittersRCV000039629 RCV001057194 RCV001330110 RCV001155420 RCV002483008 RCV002513553
NM_032119.4(ADGRV1):c.7582C>T (p.Pro2528Ser)	SNV Germline	Chr5:90694338	Conflicting classifications of pathogenicity	not specified Usher syndrome type 2C Condition: not provided Meniere disease	Criteria Provided Conflicting Classifications	CA138220	rs_201733037	12 SubmittersRCV000039633 RCV001155423 RCV000710461 RCV001797051
NM_032119.4(ADGRV1):c.7874G>A (p.Arg2625His)	SNV Germline	Chr5:90694630	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2C	Criteria Provided Conflicting Classifications	CA138228	rs_201214794	11 SubmittersRCV000039637 RCV000434012 RCV001157106
NM_032119.4(ADGRV1):c.8110A>T (p.Ile2704Phe)	SNV Germline	Chr5:90697101	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2C Hearing impairment Usher syndrome type 2C Febrile seizures, familial, 4	Criteria Provided Conflicting Classifications	CA138231	rs_376318779	8 SubmittersRCV000039639 RCV000727071 RCV001151659 RCV001375445 RCV000765845
NM_032119.4(ADGRV1):c.8161A>G (p.Ile2721Val)	SNV Germline	Chr5:90703670	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2C Usher syndrome type 2C Febrile seizures, familial, 4	Criteria Provided Conflicting Classifications	CA138236	rs_201963060	7 SubmittersRCV000039642 RCV000724489 RCV001151661 RCV005031478
NM_032119.4(ADGRV1):c.8572A>G (p.Ile2858Val)	SNV Germline	Chr5:90706236	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2C Craniosynostosis syndrome ADGRV1-related disorder	Criteria Provided Conflicting Classifications	CA138249	rs_41308297	12 SubmittersRCV000039649 RCV000514669 RCV001154703 RCV005621858 RCV004549471
NM_032119.4(ADGRV1):c.8651T>C (p.Val2884Ala)	SNV Germline	Chr5:90706315	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2C ADGRV1-related disorder	Criteria Provided Conflicting Classifications	CA138253	rs_111033517	7 SubmittersRCV000039651 RCV001852827 RCV001154704 RCV004737182
NM_032119.4(ADGRV1):c.9213C>T (p.Asp3071=)	SNV Germline	Chr5:90716495	Conflicting classifications of pathogenicity	not specified Usher syndrome type 2C Condition: not provided	Criteria Provided Conflicting Classifications	CA138263	rs_56329646	12 SubmittersRCV000039658 RCV001157216 RCV000725015
NM_032119.4(ADGRV1):c.9440G>A (p.Arg3147Gln)	SNV Germline	Chr5:90716722	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2C Idiopathic generalized epilepsy Febrile seizures, familial, 4 Usher syndrome type 2 ADGRV1-related disorder	Criteria Provided Conflicting Classifications	CA138267	rs_200792658	10 SubmittersRCV000039660 RCV000512737 RCV001157220 RCV001839410 RCV004527309 RCV001002856 RCV004724765
NM_032119.4(ADGRV1):c.9643G>A (p.Glu3215Lys)	SNV Germline	Chr5:90720954	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2C Febrile seizures, familial, 4 Usher syndrome type 2C	Criteria Provided Conflicting Classifications	CA138271	rs_199499672	6 SubmittersRCV000039662 RCV000725378 RCV000765848 RCV004821263
NM_001384140.1(PCDH15):c.1039C>T (p.Leu347Phe)	SNV Germline	Chr10:54213995	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 1 Usher syndrome type 1F	Criteria Provided Conflicting Classifications	CA138356	rs_111033436	11 SubmittersRCV000039693 RCV000969899 RCV001105070 RCV001449930
NM_001384140.1(PCDH15):c.1362C>T (p.Val454=)	SNV Germline	Chr10:54185212	Conflicting classifications of pathogenicity	not specified Usher syndrome type 1 Condition: not provided Usher syndrome type 1F	Criteria Provided Conflicting Classifications	CA138376	rs_61735479	8 SubmittersRCV000039702 RCV000272282 RCV000963503 RCV001831683
NM_001384140.1(PCDH15):c.1998-2A>G	SNV Germline	Chr10:54079426	Pathogenic/Likely pathogenic	Usher syndrome type 1F Rare genetic deafness Condition: not provided Autosomal recessive nonsyndromic hearing loss 23	Criteria Provided Multiple Submitters No Conflicts	CA261843	rs_397517452	4 SubmittersRCV000039708 RCV000824733 RCV001379283 RCV003473288
NM_001384140.1(PCDH15):c.2424G>C (p.Lys808Asn)	SNV Germline	Chr10:54022994	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 1F	Criteria Provided Conflicting Classifications	CA138384	rs_375855445	6 SubmittersRCV000039709 RCV000734148 RCV001273395
NM_001384140.1(PCDH15):c.243G>A (p.Val81=)	SNV Germline	Chr10:54378857	Conflicting classifications of pathogenicity	not specified Usher syndrome type 1 Condition: not provided Usher syndrome type 1F	Criteria Provided Conflicting Classifications	CA138388	rs_151119732	7 SubmittersRCV000039711 RCV000261127 RCV000587293 RCV001275407
NM_001384140.1(PCDH15):c.2563C>T (p.Arg855Trp)	SNV Germline	Chr10:54020380	Conflicting classifications of pathogenicity	not specified Usher syndrome type 1 Condition: not provided PCDH15-related disorder Usher syndrome type 1F	Criteria Provided Conflicting Classifications	CA138390	rs_138010738	9 SubmittersRCV000039712 RCV000259703 RCV000658086 RCV004541127 RCV001273393
NM_001384140.1(PCDH15):c.2625G>A (p.Ser875=)	SNV Germline	Chr10:54020318	Conflicting classifications of pathogenicity	not specified Usher syndrome type 1 Condition: not provided Usher syndrome type 1F	Criteria Provided Conflicting Classifications	CA138392	rs_111033516	11 SubmittersRCV000039713 RCV000309900 RCV000950187 RCV001274795
NM_001384140.1(PCDH15):c.2885G>A (p.Arg962His)	SNV Germline	Chr10:53961876	Conflicting classifications of pathogenicity	not specified Usher syndrome type 1 Usher syndrome type 1F Condition: not provided PCDH15-related disorder	Criteria Provided Conflicting Classifications	CA138398	rs_45483395	12 SubmittersRCV000039716 RCV000378203 RCV000664561 RCV000973447 RCV004534840
NM_001384140.1(PCDH15):c.2885G>T (p.Arg962Leu)	SNV Germline	Chr10:53961876	Conflicting classifications of pathogenicity	not specified Usher syndrome type 1 Condition: not provided Usher syndrome type 1F PCDH15-related disorder	Criteria Provided Conflicting Classifications	CA138400	rs_45483395	12 SubmittersRCV000039717 RCV000273097 RCV000723804 RCV001273392 RCV004534841
NM_001384140.1(PCDH15):c.3316C>T (p.Arg1106Ter)	SNV Germline	Chr10:53938872	Pathogenic/Likely pathogenic	Usher syndrome type 1F Autosomal recessive nonsyndromic hearing loss 23 Usher syndrome type 1D Usher syndrome type 1F Condition: not provided Rare genetic deafness Usher syndrome Autosomal recessive nonsyndromic hearing loss 23	Criteria Provided Multiple Submitters No Conflicts	CA261844	rs_202033121	11 SubmittersRCV000039723 RCV000515240 RCV001386496 RCV000824731 RCV003389450 RCV003473289
NM_001384140.1(PCDH15):c.3502-8C>T	SNV Germline	Chr10:53866865	Conflicting classifications of pathogenicity	not specified Usher syndrome type 1 Usher syndrome type 1F PCDH15-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA138416	rs_184144118	12 SubmittersRCV000039728 RCV000407955 RCV001826581 RCV004534843 RCV000761719
NM_001384140.1(PCDH15):c.3817C>A (p.Arg1273Ser)	SNV Germline	Chr10:53840486	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 1F Usher syndrome type 1 Usher syndrome type 1D Usher syndrome type 1D Autosomal recessive nonsyndromic hearing loss 23 Usher syndrome type 1F Retinal dystrophy	Criteria Provided Conflicting Classifications	CA138426	rs_111033363	12 SubmittersRCV000039734 RCV000727028 RCV001449585 RCV001104870 RCV001810408 RCV000763655 RCV004814969
NM_001384140.1(PCDH15):c.4080G>A (p.Val1360=)	SNV Germline	Chr10:53831437	Conflicting classifications of pathogenicity	not specified Usher syndrome type 1 Condition: not provided Usher syndrome type 1F PCDH15-related disorder	Criteria Provided Conflicting Classifications	CA138430	rs_111033499	6 SubmittersRCV000039737 RCV000296351 RCV000912149 RCV001272409 RCV004541128
NM_001384140.1(PCDH15):c.4103A>G (p.Glu1368Gly)	SNV Germline	Chr10:53831414	Conflicting classifications of pathogenicity	not specified Usher syndrome type 1 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA138432	rs_111033449	5 SubmittersRCV000039738 RCV001104868 RCV000963253 RCV002513556
NM_033056.4(PCDH15):c.4783A>C (p.Ile1595Leu)	SNV Germline	Chr10:53822943	Conflicting classifications of pathogenicity	not specified Usher syndrome type 1 Condition: not provided Usher syndrome type 1F Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA138445	rs_397517461	5 SubmittersRCV000039745 RCV000345143 RCV000928675 RCV001831686 RCV005462895
NM_033056.4(PCDH15):c.5283T>A (p.Ala1761=)	SNV Germline	Chr10:53822443	Conflicting classifications of pathogenicity	not specified Usher syndrome type 1 Condition: not provided Usher syndrome type 1F	Criteria Provided Conflicting Classifications	CA138455	rs_375134176	4 SubmittersRCV000039750 RCV000264922 RCV001497321 RCV001826583
NM_033056.4(PCDH15):c.5353T>C (p.Ser1785Pro)	SNV Germline	Chr10:53822373	Conflicting classifications of pathogenicity	not specified Usher syndrome type 1 Condition: not provided Usher syndrome type 1F Inborn genetic diseases PCDH15-related disorder	Criteria Provided Conflicting Classifications	CA138467	rs_144261647	6 SubmittersRCV000039756 RCV000280214 RCV000901705 RCV001274780 RCV004018894 RCV004541131
NM_033056.4(PCDH15):c.5414C>T (p.Pro1805Leu)	SNV Germline	Chr10:53822312	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 1 Usher syndrome type 1F PCDH15-related disorder	Criteria Provided Conflicting Classifications	CA138473	rs_114137983	9 SubmittersRCV000039759 RCV000971054 RCV001105923 RCV001831689 RCV004534846
NM_033056.4(PCDH15):c.5565C>T (p.Ala1855=)	SNV Germline	Chr10:53822161	Conflicting classifications of pathogenicity	not specified Usher syndrome type 1 Condition: not provided Usher syndrome type 1F	Criteria Provided Conflicting Classifications	CA138479	rs_111033445	11 SubmittersRCV000039762 RCV000381540 RCV000727222 RCV001831690
NM_033056.4(PCDH15):c.5603C>T (p.Thr1868Met)	SNV Germline	Chr10:53822123	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 1	Criteria Provided Conflicting Classifications	CA138485	rs_191736346	8 SubmittersRCV000039765 RCV000909077 RCV001104784
NM_033056.4(PCDH15):c.5726G>A (p.Arg1909His)	SNV Germline	Chr10:53822000	Conflicting classifications of pathogenicity	not specified Usher syndrome type 1F Condition: not provided	Criteria Provided Conflicting Classifications	CA138489	rs_145851144	5 SubmittersRCV000039767 RCV000671807 RCV001548684
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter)	SNV Germline	Chr11:17504664	Conflicting classifications of pathogenicity	Autosomal recessive nonsyndromic hearing loss 18A not specified Usher syndrome type 1 Usher syndrome type 1C Condition: not provided	Criteria Provided Conflicting Classifications	CA261936	rs_146451547	9 SubmittersRCV000041266 RCV000211746 RCV001004552 RCV000984230 RCV000725879
NM_153676.4(USH1C):c.2611G>A (p.Ala871Thr)	SNV Germline	Chr11:17495613	Conflicting classifications of pathogenicity	not specified Usher syndrome type 1C USH1C-related disorder Autosomal recessive nonsyndromic hearing loss 18A Condition: not provided	Criteria Provided Conflicting Classifications	CA142361	rs_56165709	8 SubmittersRCV000041285 RCV001810410 RCV003914998 RCV001331815 RCV001471034
NM_153676.4(USH1C):c.381G>T (p.Gly127=)	SNV Germline	Chr11:17531160	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 1C	Criteria Provided Conflicting Classifications	CA142374	rs_41282942	10 SubmittersRCV000041290 RCV000958386 RCV001106427
NM_153676.4(USH1C):c.403G>A (p.Val135Ile)	SNV Germline	Chr11:17527316	Conflicting classifications of pathogenicity	not specified Usher syndrome type 1C Condition: not provided Autosomal recessive nonsyndromic hearing loss 18A	Criteria Provided Conflicting Classifications	CA142380	rs_145013633	10 SubmittersRCV000041292 RCV000343731 RCV000963575 RCV001578830
NM_173477.5(USH1G):c.1258C>G (p.Leu420Val)	SNV Germline	Chr17:74919578	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 1G USH1G-related disorder Retinal dystrophy	Criteria Provided Conflicting Classifications	CA142646	rs_139897506	11 SubmittersRCV000041414 RCV000724716 RCV001123313 RCV004541211 RCV004814970
NM_173477.5(USH1G):c.1373A>T (p.Asp458Val)	SNV Germline	Chr17:74919463	Pathogenic/Likely pathogenic	Rare genetic deafness Condition: not provided Usher syndrome type 1G	Criteria Provided Multiple Submitters No Conflicts	CA262040	rs_397517925	4 SubmittersRCV000041415 RCV001382883 RCV001799509
NM_173477.5(USH1G):c.501C>G (p.Arg167=)	SNV Germline	Chr17:74920335	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 1G	Criteria Provided Conflicting Classifications	CA142656	rs_141688757	7 SubmittersRCV000041420 RCV000886372 RCV001125411
NM_173477.5(USH1G):c.566G>A (p.Arg189Gln)	SNV Germline	Chr17:74920270	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 1G USH1G-related disorder	Criteria Provided Conflicting Classifications	CA142660	rs_201644674	7 SubmittersRCV000041422 RCV000958231 RCV001124409 RCV004537146
NM_173477.5(USH1G):c.83C>T (p.Pro28Leu)	SNV Germline	Chr17:74922991	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 1G Optic atrophy	Criteria Provided Conflicting Classifications	CA142670	rs_145448362	10 SubmittersRCV000041427 RCV000432648 RCV001127509 RCV004814971
NM_174878.3(CLRN1):c.127G>A (p.Gly43Arg)	SNV Germline	Chr3:150972582	Pathogenic/Likely pathogenic	Rare genetic deafness Condition: not provided Usher syndrome type 3A Retinitis pigmentosa 61	Criteria Provided Multiple Submitters No Conflicts	CA142675	rs_111033434	4 SubmittersRCV000041430 RCV001058723 RCV005031479
NM_174878.3(CLRN1):c.142A>G (p.Asn48Asp)	SNV Germline	Chr3:150972567	Conflicting classifications of pathogenicity	not specified Retinal dystrophy Usher syndrome type 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA142679	rs_397517930	4 SubmittersRCV000041431 RCV001074854 RCV001831698 RCV001852844
NM_174878.3(CLRN1):c.368C>A (p.Ala123Asp)	SNV Germline	Chr3:150941647	Pathogenic/Likely pathogenic	Usher syndrome type 3 Condition: not provided Usher syndrome type 3A Usher syndrome Rare genetic deafness Retinitis pigmentosa 61 Usher syndrome type 3A Retinitis pigmentosa 61	Criteria Provided Multiple Submitters No Conflicts	CA142688	rs_374963432	8 SubmittersRCV000041436 RCV001071445 RCV002243688 RCV001582535 RCV000844624 RCV003466890 RCV005031481
NM_174878.3(CLRN1):c.9C>A (p.Ser3Arg)	SNV Germline	Chr3:150972700	Conflicting classifications of pathogenicity	not specified Usher syndrome type 3A Retinal dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA142703	rs_187218889	6 SubmittersRCV000041439 RCV001272456 RCV003887880 RCV000726773
NM_206933.4(USH2A):c.1000C>G (p.Arg334Gly)	SNV Germline	Chr1:216325448	Conflicting classifications of pathogenicity	not specified Retinal dystrophy Retinitis pigmentosa 39 Usher syndrome type 2A Condition: not provided Retinitis pigmentosa 39	Criteria Provided Conflicting Classifications	CA143213	rs_397517963	7 SubmittersRCV000041663 RCV001074760 RCV000670778 RCV001362594 RCV003466891
NM_206933.4(USH2A):c.1036A>C (p.Asn346His)	SNV Germline	Chr1:216325412	Pathogenic	Usher syndrome type 2A Retinitis pigmentosa 39 Condition: not provided Rare genetic deafness Usher syndrome Retinal dystrophy Retinitis pigmentosa	Reviewed By Expert Panel	CA262054	rs_369522997	13 SubmittersRCV000041668 RCV000411779 RCV000727128 RCV000824797 RCV000710349 RCV001074772 RCV001723627
NM_206933.4(USH2A):c.10450C>T (p.Arg3484Ter)	SNV Germline	Chr1:215782873	Pathogenic/Likely pathogenic	Rare genetic deafness Retinitis pigmentosa 39 Usher syndrome type 2A Condition: not provided Usher syndrome type 2A Retinitis pigmentosa 39 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA262056	rs_111033379	8 SubmittersRCV000041669 RCV000670189 RCV000802347 RCV001353056 RCV003450731 RCV004814973
NM_206933.4(USH2A):c.10517C>T (p.Thr3506Met)	SNV Germline	Chr1:215782806	Conflicting classifications of pathogenicity	not specified Condition: not provided Retinitis pigmentosa 39 Usher syndrome type 2A Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA143221	rs_397517966	4 SubmittersRCV000041670 RCV001350663 RCV000669162 RCV004686573
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg)	SNV Germline	Chr1:215782762	Pathogenic/Likely pathogenic	Usher syndrome type 2A Rare genetic deafness Condition: not provided Retinitis pigmentosa 39 Usher syndrome Usher syndrome type 2A Retinitis pigmentosa 39 Retinal dystrophy See cases USH2A-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA262058	rs_111033264	19 SubmittersRCV000041673 RCV000824783 RCV001056065 RCV001376413 RCV000504880 RCV000665210 RCV001074824 RCV002287354 RCV004732588
NM_206933.4(USH2A):c.10585G>A (p.Gly3529Ser)	SNV Germline	Chr1:215782738	Conflicting classifications of pathogenicity	not specified Usher syndrome type 2A Retinitis pigmentosa 39 Condition: not provided Usher syndrome Retinitis pigmentosa 39	Criteria Provided Conflicting Classifications	CA143227	rs_111033439	5 SubmittersRCV000041674 RCV000667791 RCV001852852 RCV005430950 RCV003466892
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met)	SNV Germline	Chr1:215782070	Pathogenic/Likely pathogenic	Usher syndrome type 2A Usher syndrome type 2A Retinitis pigmentosa 39 Rare genetic deafness Nonsyndromic genetic hearing loss Condition: not provided Retinal dystrophy Usher syndrome Retinitis pigmentosa 39 Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA262060	rs_202175091	15 SubmittersRCV000041676 RCV000666226 RCV000824782 RCV001544538 RCV000804464 RCV001073629 RCV003323372 RCV001293034 RCV003324502
NM_206933.4(USH2A):c.10724G>A (p.Cys3575Tyr)	SNV Germline	Chr1:215782058	Pathogenic/Likely pathogenic	Rare genetic deafness Retinal dystrophy Condition: not provided Usher syndrome type 2A Usher syndrome type 2A Retinitis pigmentosa 39 Retinitis pigmentosa 39	Criteria Provided Multiple Submitters No Conflicts	CA262062	rs_111033265	5 SubmittersRCV000041677 RCV001073926 RCV001852854 RCV003450737 RCV002496659 RCV003450738
NM_206933.4(USH2A):c.10759C>T (p.Gln3587Ter)	SNV Germline	Chr1:215780023	Pathogenic/Likely pathogenic	Rare genetic deafness Condition: not provided Usher syndrome type 2A Retinitis pigmentosa 39 Usher syndrome type 2A Retinitis pigmentosa 39	Criteria Provided Multiple Submitters No Conflicts	CA262064	rs_111033418	8 SubmittersRCV000041678 RCV000522247 RCV000664676 RCV003450739 RCV003450740
NM_206933.4(USH2A):c.10769C>T (p.Pro3590Leu)	SNV Germline	Chr1:215780013	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2A	Criteria Provided Conflicting Classifications	CA143231	rs_115403785	10 SubmittersRCV000041679 RCV000513386 RCV001197373
NM_206933.4(USH2A):c.10922G>A (p.Arg3641Lys)	SNV Germline	Chr1:215779860	Conflicting classifications of pathogenicity	not specified Retinitis pigmentosa 39 Usher syndrome type 2A Condition: not provided	Criteria Provided Conflicting Classifications	CA143239	rs_397517969	3 SubmittersRCV000041683 RCV000666661 RCV002514158
NM_206933.4(USH2A):c.11231+1G>T	SNV Germline	Chr1:215759659	Likely pathogenic	Rare genetic deafness Condition: not provided Usher syndrome type 2A	Criteria Provided Multiple Submitters No Conflicts	CA262067	rs_111033382	3 SubmittersRCV000041690 RCV002513592 RCV003445114
NM_206933.4(USH2A):c.1139A>G (p.Tyr380Cys)	SNV Germline	Chr1:216325309	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2 Retinitis pigmentosa 39	Criteria Provided Conflicting Classifications	CA143255	rs_111033395	4 SubmittersRCV000041694 RCV001852855 RCV002307376 RCV005252713
NM_206933.4(USH2A):c.1143+1G>A	SNV Germline	Chr1:216325304	Pathogenic	Rare genetic deafness Cone-rod dystrophy Usher syndrome type 2A Retinitis pigmentosa 39	Criteria Provided Multiple Submitters No Conflicts	CA262069	rs_397517974	4 SubmittersRCV000041697 RCV001199582 RCV003445115 RCV003445116
NM_206933.4(USH2A):c.1179A>G (p.Gln393=)	SNV Germline	Chr1:216324317	Conflicting classifications of pathogenicity	not specified Retinitis pigmentosa Condition: not provided Usher syndrome type 2A	Criteria Provided Conflicting Classifications	CA143271	rs_148447919	10 SubmittersRCV000041704 RCV000360778 RCV000890954 RCV000308355
NM_206933.4(USH2A):c.11927C>T (p.Thr3976Met)	SNV Germline	Chr1:215728169	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2A Retinitis pigmentosa 39 Retinal dystrophy	Criteria Provided Conflicting Classifications	CA143275	rs_142381713	12 SubmittersRCV000041707 RCV000725418 RCV000986519 RCV001579153 RCV004814974
NM_206933.4(USH2A):c.11928G>A (p.Thr3976=)	SNV Germline	Chr1:215728168	Conflicting classifications of pathogenicity	not specified Usher syndrome type 2A Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA143277	rs_55961436	11 SubmittersRCV000041708 RCV000119822 RCV000955280 RCV003887885
NM_206933.4(USH2A):c.11954G>A (p.Trp3985Ter)	SNV Germline	Chr1:215728142	Pathogenic/Likely pathogenic	Rare genetic deafness Retinal dystrophy Retinitis pigmentosa 39 Usher syndrome type 2A Condition: not provided Usher syndrome Usher syndrome type 2A Retinitis pigmentosa 39	Criteria Provided Multiple Submitters No Conflicts	CA262070	rs_397517976	8 SubmittersRCV000041710 RCV001075329 RCV000669396 RCV001852856 RCV003226175 RCV003450756 RCV003450757
NM_206933.4(USH2A):c.12067-1G>C	SNV Germline	Chr1:215680377	Pathogenic/Likely pathogenic	Rare genetic deafness Retinitis pigmentosa 39 Usher syndrome type 2A Usher syndrome type 2A Condition: not provided Retinitis pigmentosa 39	Criteria Provided Multiple Submitters No Conflicts	CA262072	rs_397517977	5 SubmittersRCV000041711 RCV000670110 RCV003445117 RCV001852857 RCV003445118
NM_206933.4(USH2A):c.12067-2A>G	SNV Germline	Chr1:215680378	Pathogenic	Rare genetic deafness Usher syndrome type 2 Retinal dystrophy Condition: not provided Usher syndrome type 2A Retinitis pigmentosa 39 Retinitis pigmentosa 39 Usher syndrome type 2A USH2A-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA262073	rs_397517978	18 SubmittersRCV000390593 RCV001003259 RCV001073917 RCV000412841 RCV000666727 RCV000983997 RCV001271128 RCV004732590
NM_206933.4(USH2A):c.12295-2A>G	SNV Germline	Chr1:215675618	Pathogenic/Likely pathogenic	Rare genetic deafness Retinitis pigmentosa 39 Usher syndrome type 2A Retinal dystrophy Condition: not provided Usher syndrome type 2A Retinitis pigmentosa 39	Criteria Provided Multiple Submitters No Conflicts	CA262074	rs_151148854	9 SubmittersRCV000041714 RCV000670554 RCV001074339 RCV001057968 RCV001826587 RCV003445119
NM_206933.4(USH2A):c.12294+1G>C	SNV Germline	Chr1:215680148	Pathogenic/Likely pathogenic	Rare genetic deafness Condition: not provided Usher syndrome type 2A	Criteria Provided Multiple Submitters No Conflicts	CA262077	rs_111033526	3 SubmittersRCV000041716 RCV001386543 RCV003445120
NM_206933.4(USH2A):c.12295-3T>A	SNV Germline	Chr1:215675619	Pathogenic	not specified Condition: not provided Retinitis pigmentosa 39 Usher syndrome Retinal dystrophy Retinitis pigmentosa 39 Usher syndrome type 2A Retinitis pigmentosa	Reviewed By Expert Panel	CA143283	rs_111033518	11 SubmittersRCV000041717 RCV000414389 RCV000675157 RCV001004773 RCV001074786 RCV005007961 RCV001723628
NM_206933.4(USH2A):c.12332C>T (p.Ser4111Phe)	SNV Germline	Chr1:215675579	Conflicting classifications of pathogenicity	not specified Condition: not provided Retinitis pigmentosa Usher syndrome type 2A Retinitis pigmentosa 39 Usher syndrome type 2A Retinitis pigmentosa 39 Retinal dystrophy USH2A-related disorder	Criteria Provided Conflicting Classifications	CA143284	rs_142095945	10 SubmittersRCV000041718 RCV001241616 RCV001270357 RCV001274935 RCV001376289 RCV002496660 RCV004814975 RCV004732591
NM_206933.4(USH2A):c.12343C>T (p.Arg4115Cys)	SNV Germline	Chr1:215675568	Conflicting classifications of pathogenicity	not specified Condition: not provided Retinal dystrophy Usher syndrome type 2A USH2A-related disorder	Criteria Provided Conflicting Classifications	CA143286	rs_111033275	9 SubmittersRCV000041719 RCV000727295 RCV001074716 RCV000986518 RCV004732592
NM_206933.4(USH2A):c.12557T>C (p.Ile4186Thr)	SNV Germline	Chr1:215675354	Conflicting classifications of pathogenicity	not specified Retinal dystrophy Condition: not provided Usher syndrome type 2A USH2A-related disorder	Criteria Provided Conflicting Classifications	CA143292	rs_112120466	7 SubmittersRCV000041722 RCV001075259 RCV000767175 RCV001274932 RCV004537148
NM_206933.4(USH2A):c.12714T>G (p.Tyr4238Ter)	SNV Germline	Chr1:215675197	Pathogenic	Rare genetic deafness Usher syndrome type 2A Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA262078	rs_397517981	3 SubmittersRCV000041728 RCV003450767 RCV001852858
NM_206933.4(USH2A):c.12739G>A (p.Gly4247Arg)	SNV Germline	Chr1:215675172	Conflicting classifications of pathogenicity	Rare genetic deafness Condition: not provided Usher syndrome Usher syndrome type 2A Retinal dystrophy	Criteria Provided Conflicting Classifications	CA262080	rs_397517982	6 SubmittersRCV000041729 RCV005089379 RCV003389451 RCV003450768 RCV003887890
NM_206933.4(USH2A):c.12868C>T (p.Gln4290Ter)	SNV Germline	Chr1:215675043	Pathogenic	Rare genetic deafness Condition: not provided Retinitis pigmentosa 39 Usher syndrome type 2A Retinal dystrophy Usher syndrome type 2A Retinitis pigmentosa 39	Criteria Provided Multiple Submitters No Conflicts	CA262082	rs_397517983	5 SubmittersRCV000041731 RCV000819445 RCV000670430 RCV001074436 RCV003450770 RCV003450771
NM_206933.4(USH2A):c.12874A>G (p.Asn4292Asp)	SNV Germline	Chr1:215675037	Likely pathogenic	not specified Retinitis pigmentosa Retinal dystrophy Condition: not provided Usher syndrome type 2A Retinitis pigmentosa 39 Usher syndrome type 2A Retinitis pigmentosa 39	Reviewed By Expert Panel	CA143304	rs_397517984	9 SubmittersRCV000041732 RCV000504620 RCV001075301 RCV001231366 RCV001810411 RCV003460549 RCV005016325
NM_206933.4(USH2A):c.12883A>G (p.Ile4295Val)	SNV Germline	Chr1:215675028	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2A	Criteria Provided Conflicting Classifications	CA143306	rs_137868043	3 SubmittersRCV000041733 RCV001246661 RCV001272947
NM_206933.4(USH2A):c.13130C>A (p.Ser4377Ter)	SNV Germline	Chr1:215674781	Pathogenic/Likely pathogenic	Usher syndrome type 2A Retinitis pigmentosa 39 Condition: not provided Rare genetic deafness	Criteria Provided Multiple Submitters No Conflicts	CA262084	rs_111033385	6 SubmittersRCV000041735 RCV000410671 RCV000725789 RCV000824778
NM_206933.4(USH2A):c.13709G>A (p.Arg4570His)	SNV Germline	Chr1:215674202	Conflicting classifications of pathogenicity	not specified Condition: not provided Retinal dystrophy Usher syndrome type 2A Retinitis pigmentosa 39	Criteria Provided Conflicting Classifications	CA143326	rs_730254	12 SubmittersRCV000041745 RCV000585560 RCV003887893 RCV001272941 RCV001376370
NM_206933.4(USH2A):c.14074G>A (p.Gly4692Arg)	SNV Germline	Chr1:215671031	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2A Retinitis pigmentosa 39 Usher syndrome type 2A Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA143334	rs_45549044	14 SubmittersRCV000041750 RCV000756882 RCV000669410 RCV001532872 RCV005417445
NM_206933.4(USH2A):c.14101G>A (p.Glu4701Lys)	SNV Germline	Chr1:215671004	Conflicting classifications of pathogenicity	not specified Retinitis pigmentosa 39 Condition: not provided Usher syndrome type 2A	Criteria Provided Conflicting Classifications	CA143336	rs_372966682	5 SubmittersRCV000041751 RCV001376435 RCV001245454 RCV001272937
NM_206933.4(USH2A):c.14180G>A (p.Trp4727Ter)	SNV Germline	Chr1:215650755	Pathogenic/Likely pathogenic	Rare genetic deafness Retinitis pigmentosa 39 Usher syndrome type 2A Condition: not provided Usher syndrome type 2A Retinitis pigmentosa 39	Criteria Provided Multiple Submitters No Conflicts	CA262089	rs_397517989	5 SubmittersRCV000041752 RCV000674521 RCV001380766 RCV003450782 RCV003450783
NM_206933.4(USH2A):c.14287G>A (p.Gly4763Arg)	SNV Germline	Chr1:215650648	Pathogenic/Likely pathogenic	Rare genetic deafness Condition: not provided Retinitis pigmentosa 39 Usher syndrome type 2A Usher syndrome type 2A Retinal dystrophy Retinitis pigmentosa 39	Criteria Provided Multiple Submitters No Conflicts	CA262091	rs_397517990	8 SubmittersRCV000041756 RCV001057445 RCV000665736 RCV001198544 RCV003887895 RCV003450788
NM_206933.4(USH2A):c.1434G>C (p.Glu478Asp)	SNV Germline	Chr1:216323590	Conflicting classifications of pathogenicity	not specified Usher syndrome type 2A Condition: not provided Retinitis pigmentosa Retinal dystrophy	Criteria Provided Conflicting Classifications	CA143350	rs_35730265	14 SubmittersRCV000041760 RCV001099108 RCV000828962 RCV001099109 RCV003887896
NM_206933.4(USH2A):c.14516C>T (p.Thr4839Met)	SNV Germline	Chr1:215648594	Conflicting classifications of pathogenicity	not specified Retinitis pigmentosa 39 Usher syndrome type 2A Usher syndrome type 2A Condition: not provided Retinal dystrophy Retinitis pigmentosa 39	Criteria Provided Conflicting Classifications	CA143356	rs_139065588	7 SubmittersRCV000041763 RCV000665634 RCV001272933 RCV001034422 RCV003887899 RCV001579147
NM_206933.4(USH2A):c.14664G>A (p.Thr4888=)	SNV Germline	Chr1:215647649	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2A Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA143366	rs_111033525	10 SubmittersRCV000041768 RCV000725431 RCV001272930 RCV004965269
NM_206933.4(USH2A):c.14911C>T (p.Arg4971Ter)	SNV Germline	Chr1:215640615	Pathogenic/Likely pathogenic	Rare genetic deafness Retinitis pigmentosa 39 Usher syndrome type 2A Condition: not provided Cone-rod dystrophy Usher syndrome Usher syndrome type 2A Retinitis pigmentosa 39 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA262093	rs_397517994	8 SubmittersRCV000041772 RCV000671978 RCV001852859 RCV000787726 RCV003114221 RCV003450801 RCV003450802 RCV004814977
NM_206933.4(USH2A):c.15364T>C (p.Cys5122Arg)	SNV Germline	Chr1:215628969	Conflicting classifications of pathogenicity	Condition: not provided Usher syndrome type 2A Usher syndrome type 2A Retinitis pigmentosa 39 Retinal dystrophy	Criteria Provided Conflicting Classifications	CA143395	rs_111033402	7 SubmittersRCV001247642 RCV001810412 RCV002483032 RCV004814978
NM_206933.4(USH2A):c.15496A>G (p.Ile5166Val)	SNV Germline	Chr1:215628837	Conflicting classifications of pathogenicity	not specified Usher syndrome type 2A Retinitis pigmentosa 39 Usher syndrome type 2A Condition: not provided Retinitis pigmentosa 39	Criteria Provided Conflicting Classifications	CA143403	rs_111033419	8 SubmittersRCV000041788 RCV001276136 RCV002504925 RCV002513599 RCV003460550
NM_206933.4(USH2A):c.1590A>T (p.Thr530=)	SNV Germline	Chr1:216321937	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2A	Criteria Provided Conflicting Classifications	CA143413	rs_144343161	5 SubmittersRCV000041793 RCV000726814 RCV001826593
NM_206933.4(USH2A):c.1606T>C (p.Cys536Arg)	SNV Germline	Chr1:216321921	Pathogenic	Rare genetic deafness Retinitis pigmentosa Usher syndrome type 2A Retinal dystrophy Condition: not provided Retinitis pigmentosa 39 Usher syndrome type 2A Retinitis pigmentosa 39 Usher syndrome	Criteria Provided Multiple Submitters No Conflicts	CA262095	rs_111033273	16 SubmittersRCV000041794 RCV000787727 RCV000984314 RCV001074602 RCV000413438 RCV000678646 RCV002483034 RCV004799759
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val)	SNV Germline	Chr1:216292352	Conflicting classifications of pathogenicity	not specified Condition: not provided Retinitis pigmentosa Usher syndrome type 2A Retinitis pigmentosa 39	Criteria Provided Conflicting Classifications	CA143415	rs_35818432	16 SubmittersRCV000041795 RCV000415970 RCV001003284 RCV001101110 RCV001376290
NM_206933.4(USH2A):c.1841-2A>G	SNV Germline	Chr1:216289412	Pathogenic	Rare genetic deafness USH2A-related disorder Usher syndrome type 2A Retinitis pigmentosa 39 Retinitis pigmentosa 39 Usher syndrome type 2A Condition: not provided Nonsyndromic genetic hearing loss	Criteria Provided Multiple Submitters No Conflicts	CA262097	rs_397518003	13 SubmittersRCV000041799 RCV000270130 RCV000665036 RCV000984014 RCV001271238 RCV001069761 RCV001544537
NM_206933.4(USH2A):c.2052A>G (p.Gln684=)	SNV Germline	Chr1:216251018	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2A Retinitis pigmentosa Retinal dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA143433	rs_111033248	13 SubmittersRCV000041805 RCV000888471 RCV000986546 RCV001097279 RCV004814979 RCV004018917
NM_206933.4(USH2A):c.2546G>A (p.Cys849Tyr)	SNV Germline	Chr1:216246848	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2A Retinitis pigmentosa Retinal dystrophy	Criteria Provided Conflicting Classifications	CA143442	rs_111033481	11 SubmittersRCV000041814 RCV000946559 RCV000986544 RCV001098935 RCV004814980
NM_206933.4(USH2A):c.264C>G (p.Cys88Trp)	SNV Germline	Chr1:216422073	Conflicting classifications of pathogenicity	not specified Retinitis pigmentosa 39 Usher syndrome type 2A Retinal dystrophy Retinitis pigmentosa 39 Condition: not provided	Criteria Provided Conflicting Classifications	CA143444	rs_368798834	7 SubmittersRCV000041815 RCV000666896 RCV001075031 RCV001376238 RCV001560407
NM_206933.4(USH2A):c.3123C>A (p.His1041Gln)	SNV Germline	Chr1:216217421	Conflicting classifications of pathogenicity	not specified Retinitis pigmentosa Condition: not provided Usher syndrome type 2A Retinal dystrophy Retinitis pigmentosa 39	Criteria Provided Conflicting Classifications	CA143454	rs_149304901	13 SubmittersRCV000041821 RCV001097184 RCV000487811 RCV001097185 RCV004814981 RCV001578841
NM_206933.4(USH2A):c.3158-6A>G	SNV Germline	Chr1:216207437	Likely pathogenic	Rare genetic deafness Retinitis pigmentosa 39 Usher syndrome	Criteria Provided Multiple Submitters No Conflicts	CA143458	rs_397518010	4 SubmittersRCV000041823 RCV003460551 RCV000505082
NM_206933.4(USH2A):c.3309C>A (p.Tyr1103Ter)	SNV Germline	Chr1:216207280	Pathogenic	Usher syndrome type 2A Retinitis pigmentosa 39 Usher syndrome type 2A Rare genetic deafness Condition: not provided Retinal dystrophy Retinitis pigmentosa 39	Criteria Provided Multiple Submitters No Conflicts	CA262098	rs_397518011	9 SubmittersRCV000041825 RCV000669871 RCV000824791 RCV001386859 RCV001074200 RCV003450838
NM_206933.4(USH2A):c.3621C>T (p.Ile1207=)	SNV Germline	Chr1:216199817	Conflicting classifications of pathogenicity	not specified Retinitis pigmentosa Condition: not provided Usher syndrome type 2A	Criteria Provided Conflicting Classifications	CA143465	rs_146462407	7 SubmittersRCV000041831 RCV000341412 RCV000974887 RCV000394479
NM_206933.4(USH2A):c.3700A>G (p.Ile1234Val)	SNV Germline	Chr1:216199738	Conflicting classifications of pathogenicity	not specified Usher syndrome type 2A Retinitis pigmentosa Retinitis pigmentosa 39 Usher syndrome type 2A Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA143467	rs_200276882	5 SubmittersRCV000041832 RCV000346771 RCV000291877 RCV000669144 RCV002513602 RCV003162354
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu)	SNV Germline	Chr1:216196698	Conflicting classifications of pathogenicity	not specified Retinitis pigmentosa 39 Condition: not provided Usher syndrome type 2A Retinitis pigmentosa 39 Usher syndrome Retinal dystrophy USH2A-related disorder Retinitis pigmentosa Usher syndrome type 2A	Criteria Provided Conflicting Classifications	CA143476	rs_201709513	16 SubmittersRCV000041837 RCV001376516 RCV000726718 RCV000665274 RCV002307377 RCV001074345 RCV004732594 RCV001723629 RCV003326116
NM_206933.4(USH2A):c.4532C>T (p.Ala1511Val)	SNV Germline	Chr1:216175347	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2A Retinitis pigmentosa 39 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA143485	rs_201710470	5 SubmittersRCV000041843 RCV001033957 RCV003450845 RCV003450846 RCV004965271
NM_206933.4(USH2A):c.4560C>T (p.Ile1520=)	SNV Germline	Chr1:216175319	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2A Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA143488	rs_148000219	13 SubmittersRCV000041844 RCV000724966 RCV001102385 RCV001102384
NM_206933.4(USH2A):c.4578G>T (p.Gly1526=)	SNV Germline	Chr1:216175301	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2A	Criteria Provided Conflicting Classifications	CA143491	rs_147560504	5 SubmittersRCV000041845 RCV000725828 RCV001273055
NM_206933.4(USH2A):c.4586A>T (p.Lys1529Ile)	SNV Germline	Chr1:216175293	Conflicting classifications of pathogenicity	not specified Usher syndrome type 2A Condition: not provided Retinitis pigmentosa Retinal dystrophy	Criteria Provided Conflicting Classifications	CA143494	rs_41303255	13 SubmittersRCV000041846 RCV000324312 RCV000513149 RCV000270447 RCV001073300
NM_206933.4(USH2A):c.478G>A (p.Gly160Ser)	SNV Germline	Chr1:216421859	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2A Retinitis pigmentosa USH2A-related disorder	Criteria Provided Conflicting Classifications	CA143499	rs_111033479	6 SubmittersRCV000041848 RCV000881175 RCV001099314 RCV001099313 RCV004537152
NM_206933.4(USH2A):c.4837A>G (p.Ile1613Val)	SNV Germline	Chr1:216089061	Conflicting classifications of pathogenicity	not specified Retinitis pigmentosa 39 Usher syndrome type 2A Condition: not provided	Criteria Provided Conflicting Classifications	CA143501	rs_397518017	3 SubmittersRCV000041849 RCV000673507 RCV002514162
NM_206933.4(USH2A):c.5581G>A (p.Gly1861Ser)	SNV Germline	Chr1:216073292	Pathogenic	Rare genetic deafness Usher syndrome Retinitis pigmentosa 39 Usher syndrome type 2A Retinal dystrophy Condition: not provided Retinitis pigmentosa 39 USH2A-related disorder	Reviewed By Expert Panel	CA262105	rs_375668376	11 SubmittersRCV000041861 RCV000710326 RCV000667951 RCV001074044 RCV001214945 RCV003460552 RCV004537153
NM_206933.4(USH2A):c.5612G>A (p.Gly1871Asp)	SNV Germline	Chr1:216073261	Conflicting classifications of pathogenicity	not specified Usher syndrome type 2A Retinitis pigmentosa 39 Condition: not provided Childhood onset hearing loss	Criteria Provided Conflicting Classifications	CA143523	rs_140895792	9 SubmittersRCV000041863 RCV001276245 RCV001588861 RCV000585075 RCV001543605
NM_206933.4(USH2A):c.5698T>G (p.Cys1900Gly)	SNV Germline	Chr1:216073175	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2A	Criteria Provided Conflicting Classifications	CA143525	rs_201026468	6 SubmittersRCV000041864 RCV000903235 RCV001810413
NM_206933.4(USH2A):c.5788C>T (p.Arg1930Ter)	SNV Germline	Chr1:216072958	Pathogenic/Likely pathogenic	Rare genetic deafness Retinitis pigmentosa 39 Usher syndrome type 2A Condition: not provided Usher syndrome type 2A Retinitis pigmentosa 39 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA262107	rs_397518021	10 SubmittersRCV000041869 RCV000668739 RCV001289411 RCV003450858 RCV003450859 RCV004794353
NM_206933.4(USH2A):c.5857+2T>C	SNV Germline	Chr1:216072887	Likely pathogenic	Rare genetic deafness USH2A-related disorder Retinal dystrophy Condition: not provided Retinitis pigmentosa 39 Usher syndrome Usher syndrome type 2A	Reviewed By Expert Panel	CA262109	rs_397518022	9 SubmittersRCV000041870 RCV000295857 RCV001074605 RCV001036145 RCV000675153 RCV001004785 RCV002291270
NM_206933.4(USH2A):c.5858-1G>A	SNV Germline	Chr1:216070293	Pathogenic/Likely pathogenic	Rare genetic deafness Retinitis pigmentosa 39 Usher syndrome type 2A Condition: not provided Usher syndrome type 2A Retinitis pigmentosa 39	Criteria Provided Multiple Submitters No Conflicts	CA262110	rs_397518023	8 SubmittersRCV000041871 RCV000665613 RCV000821430 RCV001826596 RCV003445127
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly)	SNV Germline	Chr1:216070292	Conflicting classifications of pathogenicity	not specified Retinal dystrophy Usher syndrome type 2A Retinitis pigmentosa 39 Usher syndrome type 2A Condition: not provided USH2A-related disorder Retinitis pigmentosa 39	Criteria Provided Conflicting Classifications	CA143534	rs_41302239	20 SubmittersRCV000041872 RCV000504937 RCV000765069 RCV001196428 RCV000726918 RCV004724770 RCV001579152
NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys)	SNV Germline	Chr1:216070175	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2A Retinitis pigmentosa 39 Progressive cone dystrophy (without rod involvement) USH2A-related disorder Usher syndrome type 2A	Criteria Provided Conflicting Classifications	CA248657	rs_41303287	16 SubmittersRCV000041873 RCV000585540 RCV000669397 RCV000787924 RCV004537154 RCV001273044
NM_206933.4(USH2A):c.6043C>T (p.Leu2015Phe)	SNV Germline	Chr1:216070107	Conflicting classifications of pathogenicity	not specified Retinitis pigmentosa 39 Usher syndrome type 2A Usher syndrome type 2A Condition: not provided	Criteria Provided Conflicting Classifications	CA143540	rs_370597096	4 SubmittersRCV000041876 RCV000665501 RCV001509571 RCV002513603
NM_206933.4(USH2A):c.6134A>G (p.His2045Arg)	SNV Germline	Chr1:216048563	Conflicting classifications of pathogenicity	not specified Condition: not provided Retinitis pigmentosa 39 Usher syndrome type 2A Usher syndrome type 2A	Criteria Provided Conflicting Classifications	CA143546	rs_111033514	8 SubmittersRCV000041879 RCV000726921 RCV000664994 RCV001273040
NM_206933.4(USH2A):c.6224G>A (p.Trp2075Ter)	SNV Germline	Chr1:216046532	Pathogenic	Rare genetic deafness Retinal dystrophy Condition: not provided Usher syndrome type 2A Retinitis pigmentosa 39	Criteria Provided Multiple Submitters No Conflicts	CA262111	rs_111033386	6 SubmittersRCV000041880 RCV001073793 RCV001042426 RCV001826597 RCV003450867
NM_206933.4(USH2A):c.6486G>A (p.Gln2162=)	SNV Germline	Chr1:215999058	Conflicting classifications of pathogenicity	not specified Retinitis pigmentosa 39 Usher syndrome type 2A Condition: not provided	Criteria Provided Conflicting Classifications	CA143558	rs_397518025	3 SubmittersRCV000041887 RCV000664951 RCV002513604
NM_206933.4(USH2A):c.653T>A (p.Val218Glu)	SNV Germline	Chr1:216365084	Conflicting classifications of pathogenicity	Rare genetic deafness Condition: not provided Retinitis pigmentosa Retinal dystrophy Usher syndrome type 2A Retinitis pigmentosa 39 Usher syndrome USH2A-related disorder	Criteria Provided Conflicting Classifications	CA262114	rs_397518026	18 SubmittersRCV000041890 RCV000408647 RCV000504825 RCV001075204 RCV001826599 RCV000675152 RCV005237463 RCV004537156
NM_206933.4(USH2A):c.6721C>T (p.Pro2241Ser)	SNV Germline	Chr1:215993104	Conflicting classifications of pathogenicity	not specified Usher syndrome type 2A Condition: not provided	Criteria Provided Conflicting Classifications	CA143572	rs_111033412	3 SubmittersRCV000041895 RCV001274250 RCV001210033
NM_206933.4(USH2A):c.688G>A (p.Val230Met)	SNV Germline	Chr1:216365049	Conflicting classifications of pathogenicity	not specified Condition: not provided Retinitis pigmentosa Usher syndrome type 2A Retinal dystrophy	Criteria Provided Conflicting Classifications	CA143578	rs_45500891	12 SubmittersRCV000041898 RCV000126255 RCV001097446 RCV001273813 RCV003888405
NM_206933.4(USH2A):c.7060C>T (p.Arg2354Cys)	SNV Germline	Chr1:215965377	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2A USH2A-related disorder	Criteria Provided Conflicting Classifications	CA143583	rs_111033508	5 SubmittersRCV000041901 RCV000893876 RCV001271990 RCV004732597
NM_206933.4(USH2A):c.7068T>G (p.Asn2356Lys)	SNV Germline	Chr1:215965369	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2A Usher syndrome type 2A Retinitis pigmentosa 39	Criteria Provided Conflicting Classifications	CA143585	rs_200038092	10 SubmittersRCV000041902 RCV000924303 RCV000490376 RCV000671627
NM_206933.4(USH2A):c.7244C>G (p.Ser2415Ter)	SNV Germline	Chr1:215934672	Pathogenic	Rare genetic deafness Condition: not provided Usher syndrome type 2A Retinitis pigmentosa 39	Criteria Provided Multiple Submitters No Conflicts	CA262116	rs_397518029	4 SubmittersRCV000041905 RCV001205092 RCV003450885 RCV003466893
NM_206933.4(USH2A):c.7301-6C>T	SNV Germline	Chr1:215900911	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2A	Criteria Provided Conflicting Classifications	CA143591	rs_375499259	9 SubmittersRCV000041906 RCV000724816 RCV001271985
NM_206933.4(USH2A):c.7451+3G>A	SNV Germline	Chr1:215900752	Conflicting classifications of pathogenicity	not specified Retinitis pigmentosa 39 Usher syndrome type 2A Usher syndrome type 2A Condition: not provided	Criteria Provided Conflicting Classifications	CA143594	rs_397518030	4 SubmittersRCV000041908 RCV000667778 RCV000986529 RCV002513605
NM_206933.4(USH2A):c.7844A>G (p.Gln2615Arg)	SNV Germline	Chr1:215888805	Conflicting classifications of pathogenicity	not specified Retinitis pigmentosa 39 Usher syndrome type 2A Condition: not provided	Criteria Provided Conflicting Classifications	CA143603	rs_397518032	3 SubmittersRCV000041913 RCV000668816 RCV005089381
NM_206933.4(USH2A):c.78T>C (p.Ala26=)	SNV Germline	Chr1:216422259	Conflicting classifications of pathogenicity	not specified Usher syndrome type 2A Condition: not provided Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA143611	rs_59139861	4 SubmittersRCV000041917 RCV001101303 RCV000888634 RCV001101304
NM_206933.4(USH2A):c.802G>A (p.Gly268Arg)	SNV Germline	Chr1:216327637	Pathogenic/Likely pathogenic	Usher syndrome Retinitis pigmentosa 39 Usher syndrome type 2A Retinal dystrophy Usher syndrome type 2 Condition: not provided Retinitis pigmentosa 39 Usher syndrome type 2A	Criteria Provided Multiple Submitters No Conflicts	CA143613	rs_111033280	15 SubmittersRCV000041918 RCV000675158 RCV001074162 RCV001003288 RCV001060026 RCV003450896 RCV001826601
NM_206933.4(USH2A):c.820C>T (p.Arg274Ter)	SNV Germline	Chr1:216327619	Pathogenic	Rare genetic deafness Retinitis pigmentosa 39 Usher syndrome type 2A Usher syndrome type 2A Usher syndrome Condition: not provided Retinal dystrophy Retinitis pigmentosa 39	Criteria Provided Multiple Submitters No Conflicts	CA262118	rs_397518036	8 SubmittersRCV000041921 RCV000669898 RCV001831706 RCV003389452 RCV001852861 RCV003888408 RCV003450899
NM_206933.4(USH2A):c.8342C>T (p.Thr2781Ile)	SNV Germline	Chr1:215878980	Conflicting classifications of pathogenicity	not specified Usher syndrome type 2A Condition: not provided Retinitis pigmentosa 39 Usher syndrome type 2A Retinal dystrophy Retinitis pigmentosa 39	Criteria Provided Conflicting Classifications	CA143623	rs_143240767	10 SubmittersRCV000041924 RCV000490269 RCV000937215 RCV000665134 RCV003888409 RCV001579280
NM_206933.4(USH2A):c.8431C>A (p.Pro2811Thr)	SNV Germline	Chr1:215878891	Conflicting classifications of pathogenicity	not specified Condition: not provided Retinal dystrophy Retinitis pigmentosa Retinitis pigmentosa 39 Usher syndrome type 2A	Criteria Provided Conflicting Classifications	CA262120	rs_111033529	6 SubmittersRCV000041927 RCV000937132 RCV001074998 RCV000505137 RCV000664665
NM_206933.4(USH2A):c.8559-2A>G	SNV Germline	Chr1:215877882	Pathogenic	Usher syndrome type 2A Retinitis pigmentosa Usher syndrome Retinal dystrophy Retinitis pigmentosa 39 Retinitis pigmentosa 39 Usher syndrome type 2A Rare genetic deafness Condition: not provided	Reviewed By Expert Panel	CA262122	rs_397518039	20 SubmittersRCV000041930 RCV000132715 RCV000710341 RCV001075171 RCV003460553 RCV000665497 RCV000824785 RCV000592589
NM_206933.4(USH2A):c.879T>G (p.Leu293=)	SNV Germline	Chr1:216325569	Conflicting classifications of pathogenicity	not specified Condition: not provided Retinitis pigmentosa Usher syndrome type 2A Retinal dystrophy	Criteria Provided Conflicting Classifications	CA143640	rs_3767698	6 SubmittersRCV000041935 RCV000879540 RCV001101203 RCV001101202 RCV003888412
NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter)	SNV Germline	Chr1:215845898	Pathogenic/Likely pathogenic	Rare genetic deafness Condition: not provided Retinitis pigmentosa Retinal dystrophy Retinitis pigmentosa 39 Usher syndrome type 2A Usher syndrome Usher syndrome type 2A Retinitis pigmentosa 39	Criteria Provided Multiple Submitters No Conflicts	CA262123	rs_397518041	13 SubmittersRCV000041937 RCV000760327 RCV000504790 RCV001075814 RCV000666550 RCV001193386 RCV001273709 RCV001376393
NM_206933.4(USH2A):c.9071T>A (p.Leu3024His)	SNV Germline	Chr1:215844481	Conflicting classifications of pathogenicity	not specified Condition: not provided Retinitis pigmentosa 39 Usher syndrome type 2A Usher syndrome type 2A Usher syndrome	Criteria Provided Conflicting Classifications	CA143644	rs_111033456	6 SubmittersRCV000041938 RCV001248550 RCV000669262 RCV001276962 RCV003389453
NM_206933.4(USH2A):c.9203T>C (p.Val3068Ala)	SNV Germline	Chr1:215844349	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2A Usher syndrome type 2A Retinitis pigmentosa 39	Criteria Provided Conflicting Classifications	CA143646	rs_146445078	6 SubmittersRCV000041940 RCV000416029 RCV001810414 RCV005394243
NM_206933.4(USH2A):c.9371+1G>C	SNV Germline	Chr1:215837990	Pathogenic	Rare genetic deafness Condition: not provided Usher syndrome type 2A Retinitis pigmentosa 39 Usher syndrome Usher syndrome type 2A Retinitis pigmentosa 39	Criteria Provided Multiple Submitters No Conflicts	CA262130	rs_41308425	12 SubmittersRCV000041950 RCV000726813 RCV001002711 RCV001376451 RCV004767034 RCV005016326
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter)	SNV Germline	Chr1:215817143	Pathogenic/Likely pathogenic	Usher syndrome Rare genetic deafness Inborn genetic diseases Usher syndrome type 2 Usher syndrome type 2A Retinitis pigmentosa 39 Condition: not provided Retinal dystrophy Usher syndrome type 2A Retinitis pigmentosa Retinitis pigmentosa 39 Usher syndrome USH2A-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA262131	rs_397518048	17 SubmittersRCV000041952 RCV000624783 RCV001003263 RCV002504928 RCV001055909 RCV001074810 RCV001831709 RCV001723630 RCV003387741 RCV003492342 RCV004732599
NM_206933.4(USH2A):c.9459C>A (p.Cys3153Ter)	SNV Germline	Chr1:215817108	Pathogenic	Rare genetic deafness Retinitis pigmentosa 39 Usher syndrome type 2A Retinal dystrophy Condition: not provided Usher syndrome type 2A Usher syndrome Retinitis pigmentosa 39	Criteria Provided Multiple Submitters No Conflicts	CA262133	rs_73090721	10 SubmittersRCV000041954 RCV000674717 RCV001075710 RCV001388971 RCV001273702 RCV001778686 RCV003450911
NM_206933.4(USH2A):c.9799T>C (p.Cys3267Arg)	SNV Germline	Chr1:215799066	Pathogenic/Likely pathogenic	Rare genetic deafness Retinitis pigmentosa 39 Usher syndrome type 2A Retinal dystrophy Retinitis pigmentosa Condition: not provided Retinitis pigmentosa 39 Usher syndrome type 2A	Criteria Provided Multiple Submitters No Conflicts	CA262135	rs_111033263	10 SubmittersRCV000041960 RCV000668014 RCV001075163 RCV000787745 RCV001044836 RCV003450916 RCV003450915
NM_032119.4(ADGRV1):c.9679C>T (p.Arg3227Ter)	SNV Germline	Chr5:90720990	Pathogenic	Condition: not provided Usher syndrome type 2C Usher syndrome type 2	Criteria Provided Multiple Submitters No Conflicts	CA3340572	rs_267600727	3 SubmittersRCV001854261 RCV004584604 RCV001002857
NM_022124.6(CDH23):c.2394C>T (p.Thr798=)	SNV Germline	Chr10:71695522	Conflicting classifications of pathogenicity	Condition: not provided Usher syndrome type 1	Criteria Provided Conflicting Classifications	CA223628	rs_373269394	4 SubmittersRCV000082085 RCV001275941
NM_022124.6(CDH23):c.7049C>T (p.Ser2350Leu)	SNV Germline	Chr10:71798573	Conflicting classifications of pathogenicity	Condition: not provided Pituitary adenoma 5, multiple types Usher syndrome type 1D Autosomal recessive nonsyndromic hearing loss 12 Usher syndrome type 1	Criteria Provided Conflicting Classifications	CA223630	rs_371522435	5 SubmittersRCV000082088 RCV000764922 RCV001831884
NM_032119.4(ADGRV1):c.4714A>G (p.Asn1572Asp)	SNV Germline	Chr5:90658240	Conflicting classifications of pathogenicity	Condition: not provided Usher syndrome type 2C Febrile seizures, familial, 4	Criteria Provided Conflicting Classifications	CA223821	rs_370432538	3 SubmittersRCV000082291 RCV002477242
NM_001384140.1(PCDH15):c.3936A>G (p.Ala1312=)	SNV Germline	Chr10:53840367	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 1F	Criteria Provided Conflicting Classifications	CA223847	rs_398124433	4 SubmittersRCV000082314 RCV000723701 RCV001826770
NM_206933.4(USH2A):c.6862G>T (p.Glu2288Ter)	SNV Germline	Chr1:215970720	Pathogenic	Usher syndrome type 2A Retinitis pigmentosa 39 Condition: not provided Usher syndrome type 2A Retinal dystrophy Retinitis pigmentosa 39	Criteria Provided Multiple Submitters No Conflicts	CA224398	rs_398124619	9 SubmittersRCV000675016 RCV000760348 RCV001002688 RCV001075205 RCV001376458
NM_206933.4(USH2A):c.7915T>C (p.Ser2639Pro)	SNV Germline	Chr1:215888734	Conflicting classifications of pathogenicity	Condition: not provided Usher syndrome type 2A Retinitis pigmentosa 39 Retinitis pigmentosa Usher syndrome	Criteria Provided Conflicting Classifications	CA224400	rs_398124620	5 SubmittersRCV000082831 RCV005007997 RCV001723661 RCV003230399
NM_206933.4(USH2A):c.14792-2A>G	SNV Germline	Chr1:215640736	Pathogenic/Likely pathogenic	Condition: not provided Retinitis pigmentosa 39 Usher syndrome Usher syndrome type 2A Retinal dystrophy Retinitis pigmentosa 39 Usher syndrome type 2A	Criteria Provided Multiple Submitters No Conflicts	CA228956	rs_137853923	10 SubmittersRCV000087007 RCV001376202 RCV002469009 RCV003445508 RCV001074825 RCV005008014
NM_032119.4(ADGRV1):c.4507G>A (p.Ala1503Thr)	SNV Germline	Chr5:90658033	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2C Retinal dystrophy Usher syndrome type 2C Febrile seizures, familial, 4	Criteria Provided Conflicting Classifications	CA182179	rs_201391886	11 SubmittersRCV000155106 RCV000488366 RCV001151340 RCV004815186 RCV002483173
NM_206933.4(USH2A):c.3407G>A (p.Ser1136Asn)	SNV Germline	Chr1:216200031	Pathogenic	Usher syndrome type 2A Usher syndrome type 2A Retinitis pigmentosa 39 Cone-rod dystrophy Usher syndrome Condition: not provided	Reviewed By Expert Panel	CA269917	rs_483353055	7 SubmittersRCV000119824 RCV000675179 RCV000787729 RCV001089677 RCV001231408
NM_206933.4(USH2A):c.7475C>A (p.Ser2492Ter)	SNV Germline	Chr1:215900194	Pathogenic/Likely pathogenic	Usher syndrome type 2A Condition: not provided Retinitis pigmentosa 39	Criteria Provided Multiple Submitters No Conflicts	CA269919	rs_483353056	3 SubmittersRCV000119825 RCV000444053 RCV003453052
NM_032119.4(ADGRV1):c.-44C>T	SNV Germline	Chr5:90558852	Conflicting classifications of pathogenicity	not specified Usher syndrome type 2C	Criteria Provided Conflicting Classifications	CA291105	rs_192362302	2 SubmittersRCV000125288 RCV001152776
NM_032119.4(ADGRV1):c.1849G>A (p.Val617Met)	SNV Germline	Chr5:90635123	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2C ADGRV1-related disorder	Criteria Provided Conflicting Classifications	CA291107	rs_199988872	11 SubmittersRCV000125295 RCV000725781 RCV000987533 RCV004737211
NM_032119.4(ADGRV1):c.2112G>A (p.Pro704=)	SNV Germline	Chr5:90637820	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2C ADGRV1-related disorder	Criteria Provided Conflicting Classifications	CA291109	rs_182990046	6 SubmittersRCV000125297 RCV000725782 RCV001154171 RCV004551217
NM_032119.4(ADGRV1):c.12403+1G>T	SNV Unknown	Chr5:90774304	Likely pathogenic	Usher syndrome type 2C	No Assertion Criteria Provided	CA270123	rs_527236132	1 SubmittersRCV000132685
NM_032119.4(ADGRV1):c.15736C>T (p.Arg5246Ter)	SNV Germline	Chr5:90810996	Pathogenic	Usher syndrome type 2C Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA270124	rs_527236131	3 SubmittersRCV000132686 RCV001849953
NM_032119.4(ADGRV1):c.7006C>T (p.Arg2336Ter)	SNV Germline	Chr5:90692659	Pathogenic	Usher syndrome type 2C Condition: not provided Rare genetic deafness	Criteria Provided Multiple Submitters No Conflicts	CA270126	rs_527236133	4 SubmittersRCV000132687 RCV001849954 RCV000844604
NM_206933.4(USH2A):c.11156G>A (p.Arg3719His)	SNV Germline	Chr1:215759735	Pathogenic/Likely pathogenic	Usher syndrome type 2A Retinitis pigmentosa Condition: not provided Usher syndrome type 2A Retinitis pigmentosa 39 Retinitis pigmentosa 39 Retinal dystrophy Usher syndrome USH2A-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA270135	rs_527236139	23 SubmittersRCV000132701 RCV000504711 RCV000413588 RCV000665160 RCV000678643 RCV001074730 RCV003226212 RCV004732702
NM_206933.4(USH2A):c.12079C>T (p.Gln4027Ter)	SNV Unknown	Chr1:215680364	Likely pathogenic	Usher syndrome type 2A	No Assertion Criteria Provided	CA270137	rs_527236138	1 SubmittersRCV000132702
NM_206933.4(USH2A):c.13010C>T (p.Thr4337Met)	SNV Germline	Chr1:215674901	Pathogenic/Likely pathogenic	Usher syndrome type 2A Rare genetic deafness Condition: not provided Retinitis pigmentosa 39 Retinal dystrophy Retinitis pigmentosa Usher syndrome type 2A Retinitis pigmentosa 39	Criteria Provided Multiple Submitters No Conflicts	CA270139	rs_527236137	15 SubmittersRCV000132703 RCV000824779 RCV001043740 RCV000983996 RCV001073283 RCV003324517 RCV005016461
NM_206933.4(USH2A):c.13847G>T (p.Gly4616Val)	SNV Germline	Chr1:215671258	Pathogenic/Likely pathogenic	Retinitis pigmentosa Retinal dystrophy Condition: not provided Usher syndrome Usher syndrome type 2A Retinitis pigmentosa 39 Retinitis pigmentosa 39	Criteria Provided Multiple Submitters No Conflicts	CA270143	rs_527236124	8 SubmittersRCV000132705 RCV001075191 RCV002514759 RCV004525879 RCV005016462 RCV003453100
NM_206933.4(USH2A):c.14243C>T (p.Ser4748Phe)	SNV Germline	Chr1:215650692	Pathogenic/Likely pathogenic	Retinitis pigmentosa Leber congenital amaurosis Retinitis pigmentosa 39 Usher syndrome type 2A Retinal dystrophy Condition: not provided Retinitis pigmentosa 39	Criteria Provided Multiple Submitters No Conflicts	CA270145	rs_527236126	7 SubmittersRCV000132706 RCV000144482 RCV000675147 RCV003888572 RCV002514760 RCV003462051
NM_206933.4(USH2A):c.15233C>G (p.Pro5078Arg)	SNV Germline	Chr1:215634523	Conflicting classifications of pathogenicity	Retinitis pigmentosa Condition: not provided Retinal dystrophy Usher syndrome type 2A Retinitis pigmentosa 39 Usher syndrome	Criteria Provided Conflicting Classifications	CA270149	rs_527236122	9 SubmittersRCV000132708 RCV001221094 RCV003888573 RCV000490337 RCV003462052 RCV004767086
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp)	SNV Germline	Chr1:216246592	Conflicting classifications of pathogenicity	Retinitis pigmentosa Retinitis pigmentosa 39 Condition: not provided Usher syndrome type 2A Retinal dystrophy Usher syndrome type 2 Usher syndrome Retinitis pigmentosa 39 Usher syndrome type 2A	Criteria Provided Conflicting Classifications	CA270152	rs_201527662	25 SubmittersRCV000132710 RCV000576637 RCV000595137 RCV000986542 RCV001074347 RCV001003277 RCV002469023 RCV004796037
NM_206933.4(USH2A):c.2983C>T (p.Gln995Ter)	SNV Unknown	Chr1:216231963	Pathogenic	Usher syndrome type 2A	No Assertion Criteria Provided	CA270154	rs_527236135	1 SubmittersRCV000132711
NM_032119.4(ADGRV1):c.1797A>T (p.Arg599Ser)	SNV Germline	Chr5:90629497	Conflicting classifications of pathogenicity	not specified Usher syndrome type 2C Condition: not provided	Criteria Provided Conflicting Classifications	CA172270	rs_200058876	5 SubmittersRCV000146071 RCV000987532 RCV000725730
NM_032119.4(ADGRV1):c.1855T>G (p.Leu619Val)	SNV Germline	Chr5:90635129	Conflicting classifications of pathogenicity	Febrile seizures, familial, 4 not specified Condition: not provided Usher syndrome type 2C	Criteria Provided Conflicting Classifications	CA182165	rs_202064612	7 SubmittersRCV000146074 RCV000155099 RCV000725995 RCV001152891
NM_032119.4(ADGRV1):c.9650C>T (p.Ala3217Val)	SNV Germline	Chr5:90720961	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2C Febrile seizures, familial, 1	Criteria Provided Conflicting Classifications	CA172279	rs_114137750	11 SubmittersRCV000146084 RCV000433341 RCV000714565 RCV000714566
NM_206933.4(USH2A):c.13808A>C (p.His4603Pro)	SNV Germline	Chr1:215674103	Likely pathogenic	not specified Retinitis pigmentosa 39 Usher syndrome type 2A Retinal dystrophy Usher syndrome Condition: not provided	Reviewed By Expert Panel	CA183350	rs_727504551	5 SubmittersRCV000155713 RCV000671700 RCV001073548 RCV002250425 RCV001850131
NM_206933.4(USH2A):c.5048A>G (p.Asn1683Ser)	SNV Germline	Chr1:216084817	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2A Retinal dystrophy USH2A-related disorder	Criteria Provided Conflicting Classifications	CA182602	rs_140080678	7 SubmittersRCV000155329 RCV000723740 RCV001273050 RCV004815235 RCV004732716
NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp)	SNV Germline	Chr1:216084853	Pathogenic	not specified Retinitis pigmentosa Condition: not provided Usher syndrome Retinal dystrophy Retinitis pigmentosa 39 Usher syndrome type 2A Retinitis pigmentosa 39 USH2A-related disorder	Reviewed By Expert Panel	CA185105	rs_727505116	12 SubmittersRCV000156571 RCV000505112 RCV000725477 RCV001004787 RCV003991016 RCV005008063 RCV003462063 RCV004528894
NM_206933.4(USH2A):c.15581G>A (p.Arg5194His)	SNV Germline	Chr1:215625809	Conflicting classifications of pathogenicity	not specified Retinitis pigmentosa 39 Usher syndrome type 2A Condition: not provided	Criteria Provided Conflicting Classifications	CA185216	rs_727505155	3 SubmittersRCV000156623 RCV000668542 RCV003311698
NM_206933.4(USH2A):c.14803C>T (p.Arg4935Ter)	SNV Germline	Chr1:215640723	Pathogenic	Retinitis pigmentosa 39 Usher syndrome type 2A Rare genetic deafness Condition: not provided Retinal dystrophy Retinitis pigmentosa 39 Usher syndrome type 2A USH2A-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA273457	rs_146733615	10 SubmittersRCV000411616 RCV000410556 RCV000824777 RCV001054211 RCV001073844 RCV002505168 RCV004544405
NM_206933.4(USH2A):c.14753C>T (p.Thr4918Met)	SNV Germline	Chr1:215647560	Conflicting classifications of pathogenicity	not specified Condition: not provided Retinal dystrophy Usher syndrome type 2A	Criteria Provided Conflicting Classifications	CA180690	rs_56136489	10 SubmittersRCV000154359 RCV000724181 RCV004815236 RCV001272929
NM_206933.4(USH2A):c.14248C>T (p.Gln4750Ter)	SNV Germline	Chr1:215650687	Pathogenic	Rare genetic deafness Usher syndrome type 2A Condition: not provided Usher syndrome type 2A Retinitis pigmentosa 39 Retinitis pigmentosa 39	Criteria Provided Multiple Submitters No Conflicts	CA273630	rs_727504867	6 SubmittersRCV000156228 RCV001826849 RCV002515013 RCV005016474 RCV003453191
NM_206933.4(USH2A):c.5624A>G (p.Asn1875Ser)	SNV Germline	Chr1:216073249	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2A USH2A-related disorder	Criteria Provided Conflicting Classifications	CA182598	rs_141609561	9 SubmittersRCV000155327 RCV000891558 RCV000986533 RCV004534990
NM_206933.4(USH2A):c.12598T>G (p.Trp4200Gly)	SNV Germline	Chr1:215675313	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2A Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA182586	rs_114116572	6 SubmittersRCV000155321 RCV000724907 RCV001272951 RCV004019860
NM_206933.4(USH2A):c.11815G>A (p.Glu3939Lys)	SNV Germline	Chr1:215728281	Conflicting classifications of pathogenicity	not specified Retinitis pigmentosa 39 Usher syndrome type 2A Usher syndrome type 2A Retinitis pigmentosa 39 Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA182588	rs_146264950	14 SubmittersRCV000155322 RCV000664687 RCV001274938 RCV001579277 RCV001244553 RCV004815242
NM_206933.4(USH2A):c.10904C>A (p.Thr3635Asn)	SNV Germline	Chr1:215779878	Conflicting classifications of pathogenicity	not specified Usher syndrome type 2A Retinitis pigmentosa 39 Condition: not provided Usher syndrome type 2A Retinal dystrophy	Criteria Provided Conflicting Classifications	CA185250	rs_727505166	5 SubmittersRCV000156642 RCV000763828 RCV002516341 RCV001271141 RCV003888605
NM_206933.4(USH2A):c.10826G>T (p.Ser3609Ile)	SNV Germline	Chr1:215779956	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2A Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA180688	rs_727504307	6 SubmittersRCV000154358 RCV000732182 RCV001273696 RCV004019848
NM_206933.4(USH2A):c.9842G>T (p.Cys3281Phe)	SNV Germline	Chr1:215799023	Conflicting classifications of pathogenicity	not specified Retinal dystrophy Usher syndrome type 2A Retinitis pigmentosa 39 Retinitis pigmentosa 39 Usher syndrome type 2A Condition: not provided	Criteria Provided Conflicting Classifications	CA183787	rs_727504654	9 SubmittersRCV000155917 RCV001074861 RCV001273698 RCV001376534 RCV000666703 RCV001227049
NM_206933.4(USH2A):c.9307A>G (p.Ile3103Val)	SNV Germline	Chr1:215838055	Conflicting classifications of pathogenicity	not specified Retinitis pigmentosa 39 Usher syndrome type 2A Condition: not provided	Criteria Provided Conflicting Classifications	CA179526	rs_143352618	4 SubmittersRCV000152585 RCV000673073 RCV001244965
NM_206933.4(USH2A):c.8993C>G (p.Ser2998Cys)	SNV Germline	Chr1:215845886	Conflicting classifications of pathogenicity	not specified Condition: not provided Retinitis pigmentosa 39 Usher syndrome type 2A	Criteria Provided Conflicting Classifications	CA179529	rs_559922535	3 SubmittersRCV000152588 RCV001307268 RCV000671038
NM_206933.4(USH2A):c.8559-7G>A	SNV Germline	Chr1:215877887	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2A	Criteria Provided Conflicting Classifications	CA179533	rs_199618999	4 SubmittersRCV000152593 RCV000727256 RCV001276967
NM_206933.4(USH2A):c.6398G>A (p.Trp2133Ter)	SNV Germline	Chr1:216000490	Pathogenic/Likely pathogenic	Rare genetic deafness Retinitis pigmentosa 39 Usher syndrome type 2A Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA273288	rs_727503725	4 SubmittersRCV000152604 RCV001376394 RCV003453130 RCV003688831
NM_206933.4(USH2A):c.3648C>T (p.Tyr1216=)	SNV Germline	Chr1:216199790	Conflicting classifications of pathogenicity	not specified Retinitis pigmentosa Usher syndrome type 2A Condition: not provided	Criteria Provided Conflicting Classifications	CA179572	rs_147947402	6 SubmittersRCV000152620 RCV000288419 RCV000403072 RCV000905750
NM_206933.4(USH2A):c.3139C>G (p.Leu1047Val)	SNV Germline	Chr1:216217405	Conflicting classifications of pathogenicity	not specified Retinitis pigmentosa Condition: not provided Usher syndrome type 2A Retinitis pigmentosa 39 Usher syndrome type 2A	Criteria Provided Conflicting Classifications	CA179578	rs_727503735	5 SubmittersRCV000152627 RCV001097183 RCV000918519 RCV001097182 RCV005394520
NM_206933.4(USH2A):c.3043C>T (p.His1015Tyr)	SNV Germline	Chr1:216217501	Conflicting classifications of pathogenicity	not specified Usher syndrome type 2A Condition: not provided	Criteria Provided Conflicting Classifications	CA179580	rs_142302070	5 SubmittersRCV000152628 RCV000477797 RCV001034259
NM_206933.4(USH2A):c.2510G>A (p.Arg837Gln)	SNV Germline	Chr1:216246884	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2A Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA179584	rs_148594393	6 SubmittersRCV000152631 RCV000881023 RCV001100749 RCV001100750
NM_206933.4(USH2A):c.1448C>T (p.Thr483Met)	SNV Germline	Chr1:216323576	Conflicting classifications of pathogenicity	not specified Condition: not provided Retinitis pigmentosa 39 Usher syndrome type 2A	Criteria Provided Conflicting Classifications	CA183926	rs_201847741	3 SubmittersRCV000155979 RCV000943628 RCV000666822
NM_206933.4(USH2A):c.821G>A (p.Arg274Gln)	SNV Germline	Chr1:216327618	Conflicting classifications of pathogenicity	Retinitis pigmentosa 39 Usher syndrome type 2A Usher syndrome type 2A not specified Condition: not provided Retinitis pigmentosa 39	Criteria Provided Conflicting Classifications	CA183997	rs_727504721	7 SubmittersRCV000673498 RCV001831971 RCV000156012 RCV001731487 RCV003462061
NM_206933.4(USH2A):c.486-13G>A	SNV Germline	Chr1:216418692	Conflicting classifications of pathogenicity	not specified Usher syndrome type 2A Retinitis pigmentosa Condition: not provided	Criteria Provided Conflicting Classifications	CA179592	rs_116367260	4 SubmittersRCV000152636 RCV001097551 RCV001097552 RCV001520496
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His)	SNV Germline	Chr1:215675336	Conflicting classifications of pathogenicity	not specified Condition: not provided Retinitis pigmentosa Retinitis pigmentosa 39 Usher syndrome type 2A Retinal dystrophy Usher syndrome USH2A-related disorder Usher syndrome type 2A Retinitis pigmentosa 39	Criteria Provided Conflicting Classifications	CA179511	rs_199605265	23 SubmittersRCV000152569 RCV000480057 RCV000505125 RCV000675140 RCV001004143 RCV001074420 RCV003226215 RCV004532711 RCV005016470
NM_206933.4(USH2A):c.12275G>A (p.Arg4092Lys)	SNV Germline	Chr1:215680168	Conflicting classifications of pathogenicity	Condition: not provided not specified Retinitis pigmentosa 39 Usher syndrome type 2A	Criteria Provided Conflicting Classifications	CA185267	rs_727505170	5 SubmittersRCV001238988 RCV000156650 RCV000666738
NM_206933.4(USH2A):c.11822G>A (p.Arg3941Gln)	SNV Germline	Chr1:215728274	Conflicting classifications of pathogenicity	not specified Retinitis pigmentosa 39 Usher syndrome type 2A Condition: not provided	Criteria Provided Conflicting Classifications	CA183417	rs_727504582	3 SubmittersRCV000155755 RCV000671917 RCV004700483
NM_206933.4(USH2A):c.11734G>A (p.Glu3912Lys)	SNV Germline	Chr1:215728362	Conflicting classifications of pathogenicity	not specified Usher syndrome type 2A Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA182590	rs_142617606	5 SubmittersRCV000155323 RCV001271132 RCV001473378 RCV002514994
NM_206933.4(USH2A):c.11597C>T (p.Ala3866Val)	SNV Germline	Chr1:215741489	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2A	Criteria Provided Conflicting Classifications	CA182592	rs_138326802	5 SubmittersRCV000155324 RCV001531657 RCV001197770
NM_206933.4(USH2A):c.11440G>T (p.Gly3814Ter)	SNV Germline	Chr1:215743285	Pathogenic	Rare genetic deafness Retinitis pigmentosa Usher syndrome type 2A Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA273676	rs_727505337	4 SubmittersRCV000156887 RCV000787718 RCV003453204 RCV002515040
NM_206933.4(USH2A):c.9688G>A (p.Ala3230Thr)	SNV Germline	Chr1:215813787	Conflicting classifications of pathogenicity	not specified Condition: not provided Inborn genetic diseases Usher syndrome type 2A	Criteria Provided Conflicting Classifications	CA185062	rs_528342000	7 SubmittersRCV000156547 RCV000727102 RCV002515026 RCV001276957
NM_206933.4(USH2A):c.6590C>T (p.Thr2197Ile)	SNV Germline	Chr1:215998954	Conflicting classifications of pathogenicity	not specified Usher syndrome Retinitis pigmentosa 39 Usher syndrome type 2A Usher syndrome type 2A Condition: not provided	Criteria Provided Conflicting Classifications	CA179546	rs_140487302	11 SubmittersRCV000152602 RCV000504981 RCV000669599 RCV001826815 RCV001240603
NM_206933.4(USH2A):c.4378G>A (p.Gly1460Arg)	SNV Germline	Chr1:216190241	Conflicting classifications of pathogenicity	not specified Usher syndrome type 2A Retinitis pigmentosa 39 Condition: not provided Usher syndrome type 2A Retinitis pigmentosa 39 Usher syndrome USH2A-related disorder	Criteria Provided Conflicting Classifications	CA182604	rs_139311927	8 SubmittersRCV000155330 RCV000765070 RCV001381659 RCV001276257 RCV001376456 RCV003479024 RCV004732718
NM_206933.4(USH2A):c.3801G>A (p.Ala1267=)	SNV Germline	Chr1:216199637	Conflicting classifications of pathogenicity	not specified Retinitis pigmentosa Usher syndrome type 2A Retinal dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA179570	rs_537863698	5 SubmittersRCV000152619 RCV000295631 RCV000389900 RCV001075377 RCV001207755
NM_206933.4(USH2A):c.3395G>A (p.Gly1132Asp)	SNV Germline	Chr1:216200043	Conflicting classifications of pathogenicity	not specified Usher syndrome Condition: not provided Retinitis pigmentosa Usher syndrome type 2A USH2A-related disorder	Criteria Provided Conflicting Classifications	CA179576	rs_34596189	12 SubmittersRCV000152625 RCV000504687 RCV000894588 RCV001100644 RCV001100645 RCV004544387
NM_206933.4(USH2A):c.2541C>A (p.Cys847Ter)	SNV Germline	Chr1:216246853	Pathogenic	Rare genetic deafness Condition: not provided Retinitis pigmentosa 39 Usher syndrome type 2A	Criteria Provided Multiple Submitters No Conflicts	CA273290	rs_727503736	4 SubmittersRCV000152630 RCV001857523 RCV003474803 RCV003453141
NM_206933.4(USH2A):c.2332G>T (p.Asp778Tyr)	SNV Germline	Chr1:216247062	Conflicting classifications of pathogenicity	not specified Condition: not provided Retinal dystrophy Usher syndrome Usher syndrome type 2A Usher syndrome type 2A Retinitis pigmentosa 39	Criteria Provided Conflicting Classifications	CA182608	rs_142898216	9 SubmittersRCV000155332 RCV001051381 RCV001073261 RCV001804867 RCV001810429 RCV005016473
NM_206933.4(USH2A):c.2001C>T (p.His667=)	SNV Germline	Chr1:216251069	Conflicting classifications of pathogenicity	not specified Usher syndrome type 2A Condition: not provided Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA182606	rs_142870255	9 SubmittersRCV000155331 RCV000396635 RCV000925735 RCV000310998
NM_206933.4(USH2A):c.1608C>T (p.Cys536=)	SNV Germline	Chr1:216321919	Conflicting classifications of pathogenicity	not specified Condition: not provided Retinitis pigmentosa Usher syndrome type 2A Retinal dystrophy	Criteria Provided Conflicting Classifications	CA179586	rs_187380128	6 SubmittersRCV000152632 RCV000941463 RCV001097357 RCV001101111 RCV003888580
NM_206933.4(USH2A):c.1530C>T (p.Asp510=)	SNV Germline	Chr1:216323494	Conflicting classifications of pathogenicity	not specified Retinitis pigmentosa Condition: not provided Usher syndrome type 2A	Criteria Provided Conflicting Classifications	CA183450	rs_200940197	7 SubmittersRCV000155770 RCV000336096 RCV000827304 RCV000388226
NM_206933.4(USH2A):c.632G>A (p.Trp211Ter)	SNV Germline	Chr1:216418533	Pathogenic	Rare genetic deafness Usher syndrome Retinitis pigmentosa 39	Criteria Provided Multiple Submitters No Conflicts	CA273632	rs_727504893	3 SubmittersRCV000156272 RCV003479025 RCV003462062
NM_206933.4(USH2A):c.485+12T>C	SNV Germline	Chr1:216421840	Conflicting classifications of pathogenicity	not specified Usher syndrome type 2A Retinitis pigmentosa Retinal dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA179593	rs_201857884	5 SubmittersRCV000152638 RCV000349749 RCV000383355 RCV001073743 RCV001520246
NM_174878.3(CLRN1):c.660C>T (p.Asp220=)	SNV Germline	Chr3:150927975	Conflicting classifications of pathogenicity	not specified Usher syndrome type 3 Condition: not provided Usher syndrome type 3A	Criteria Provided Conflicting Classifications	CA182098	rs_148752352	7 SubmittersRCV000155062 RCV000382986 RCV000907924 RCV001273479
NM_032119.4(ADGRV1):c.207+3A>G	SNV Germline	Chr5:90615022	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2C	Criteria Provided Conflicting Classifications	CA182162	rs_142356935	6 SubmittersRCV000155097 RCV000710441 RCV001152780
NM_032119.4(ADGRV1):c.853C>G (p.Arg285Gly)	SNV Germline	Chr5:90627391	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2C Retinal dystrophy	Criteria Provided Conflicting Classifications	CA182163	rs_200197273	8 SubmittersRCV000155098 RCV000710465 RCV001154893 RCV004815238
NM_032119.4(ADGRV1):c.1510-7A>T	SNV Germline	Chr5:90629203	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2C ADGRV1-related disorder	Criteria Provided Conflicting Classifications	CA185856	rs_182260529	5 SubmittersRCV000156928 RCV000891867 RCV001156566 RCV004551353
NM_032119.4(ADGRV1):c.1837C>A (p.Gln613Lys)	SNV Germline	Chr5:90629537	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2C Retinitis pigmentosa ADGRV1-related disorder Usher syndrome type 2	Criteria Provided Conflicting Classifications	CA176188	rs_199587998	12 SubmittersRCV000150755 RCV000725188 RCV001152888 RCV001589003 RCV004551304 RCV005359319
NM_032119.4(ADGRV1):c.5282C>G (p.Ser1761Cys)	SNV Germline	Chr5:90675414	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2C ADGRV1-related disorder	Criteria Provided Conflicting Classifications	CA176191	rs_200392821	6 SubmittersRCV000150758 RCV000724365 RCV001155222 RCV004737231
NM_032119.4(ADGRV1):c.7873C>T (p.Arg2625Cys)	SNV Germline	Chr5:90694629	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2C Febrile seizures, familial, 4 Usher syndrome type 2C Inborn genetic diseases ADGRV1-related disorder	Criteria Provided Conflicting Classifications	CA183383	rs_201583659	8 SubmittersRCV000155734 RCV000710462 RCV000765844 RCV001157105 RCV002516135 RCV004551348
NM_032119.4(ADGRV1):c.9447+6G>A	SNV Germline	Chr5:90716735	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2C	Criteria Provided Conflicting Classifications	CA176205	rs_201481219	10 SubmittersRCV000150766 RCV000724883 RCV001157221
NM_032119.4(ADGRV1):c.10527C>T (p.Ser3509=)	SNV Germline	Chr5:90729742	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2C	Criteria Provided Conflicting Classifications	CA182185	rs_201475256	6 SubmittersRCV000155109 RCV000908473 RCV001155645
NM_032119.4(ADGRV1):c.11745T>C (p.Phe3915=)	SNV Germline	Chr5:90756618	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2C ADGRV1-related disorder	Criteria Provided Conflicting Classifications	CA185456	rs_201453118	5 SubmittersRCV000156733 RCV000879968 RCV001151872 RCV004551349
NM_032119.4(ADGRV1):c.12489G>C (p.Gly4163=)	SNV Germline	Chr5:90776538	Conflicting classifications of pathogenicity	not specified Usher syndrome type 2C	Criteria Provided Conflicting Classifications	CA176233	rs_727503080	2 SubmittersRCV000150782 RCV001157418
NM_032119.4(ADGRV1):c.14427A>G (p.Glu4809=)	SNV Germline	Chr5:90791256	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2C	Criteria Provided Conflicting Classifications	CA183672	rs_727504605	3 SubmittersRCV000155856 RCV000933627 RCV001157527
NM_032119.4(ADGRV1):c.14761G>A (p.Ala4921Thr)	SNV Germline	Chr5:90805383	Conflicting classifications of pathogenicity	not specified Condition: not provided Inborn genetic diseases Usher syndrome type 2	Criteria Provided Conflicting Classifications	CA182198	rs_200115167	10 SubmittersRCV000155116 RCV000724660 RCV002514982 RCV005359332
NM_032119.4(ADGRV1):c.1522A>C (p.Ile508Leu)	SNV Germline	Chr5:90629222	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2C ADGRV1-related disorder Retinal dystrophy	Criteria Provided Conflicting Classifications	CA176186	rs_61744480	10 SubmittersRCV000150754 RCV000891203 RCV001156567 RCV004551303 RCV004815215
NM_032119.4(ADGRV1):c.2119A>T (p.Ile707Leu)	SNV Germline	Chr5:90637827	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2C ADGRV1-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA182167	rs_200897149	7 SubmittersRCV000155100 RCV000897118 RCV001154172 RCV004551339 RCV004019856
NM_032119.4(ADGRV1):c.2261T>C (p.Val754Ala)	SNV Germline	Chr5:90642656	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2	Criteria Provided Conflicting Classifications	CA182169	rs_374609813	3 SubmittersRCV000155101 RCV001514610 RCV005359331
NM_032119.4(ADGRV1):c.7867G>A (p.Glu2623Lys)	SNV Germline	Chr5:90694623	Conflicting classifications of pathogenicity	not specified Usher syndrome type 2C Condition: not provided Inborn genetic diseases Retinal dystrophy	Criteria Provided Conflicting Classifications	CA176199	rs_146526977	8 SubmittersRCV000150763 RCV001157104 RCV001312581 RCV002514899 RCV004815216
NM_032119.4(ADGRV1):c.9558C>T (p.Thr3186=)	SNV Germline	Chr5:90720158	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2C	Criteria Provided Conflicting Classifications	CA176206	rs_201089046	5 SubmittersRCV000150767 RCV000728496 RCV001151753
NM_032119.4(ADGRV1):c.11201T>C (p.Val3734Ala)	SNV Germline	Chr5:90753653	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2C ADGRV1-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA176218	rs_113498662	8 SubmittersRCV000150773 RCV000766419 RCV001157314 RCV004551308 RCV002516027
NM_032119.4(ADGRV1):c.11974G>A (p.Asp3992Asn)	SNV Germline	Chr5:90759442	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2C ADGRV1-related disorder	Criteria Provided Conflicting Classifications	CA182189	rs_201386977	13 SubmittersRCV000155111 RCV000585241 RCV001153109 RCV004551343
NM_032119.4(ADGRV1):c.12181G>T (p.Val4061Phe)	SNV Germline	Chr5:90763365	Conflicting classifications of pathogenicity	not specified Febrile seizures, familial, 4 Usher syndrome type 2C Condition: not provided Hearing impairment Usher syndrome type 2C	Criteria Provided Conflicting Classifications	CA176223	rs_200816323	12 SubmittersRCV000150777 RCV000765850 RCV000729114 RCV001375219 RCV001153111
NM_032119.4(ADGRV1):c.12212G>A (p.Arg4071Gln)	SNV Germline	Chr5:90763396	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2C	Criteria Provided Conflicting Classifications	CA182191	rs_202190568	8 SubmittersRCV000155112 RCV000514796 RCV001155715
NM_032119.4(ADGRV1):c.12631C>T (p.Arg4211Ter)	SNV Germline	Chr5:90778008	Pathogenic	Rare genetic deafness Condition: not provided Usher syndrome type 2C Febrile seizures, familial, 4	Criteria Provided Multiple Submitters No Conflicts	CA273611	rs_727504777	3 SubmittersRCV000156094 RCV002515009 RCV005042305
NM_032119.4(ADGRV1):c.12830G>T (p.Arg4277Leu)	SNV Germline	Chr5:90778590	Conflicting classifications of pathogenicity	not specified Usher syndrome type 2C Condition: not provided	Criteria Provided Conflicting Classifications	CA184356	rs_571603222	3 SubmittersRCV000156195 RCV001151951 RCV003660764

NM_206933.4(USH2A):c.779T>G (p.Leu260Ter)

SNV
Germline

Chr1:216364958

Pathogenic

Usher syndrome type 2A

No Assertion Criteria Provided

CA252229

rs_121912598

1 SubmittersRCV000002448

NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr)

SNV
Germline

Chr1:216325492

Pathogenic

Usher syndrome type 2A
Condition: not provided
Usher syndrome
Retinal dystrophy
Rare genetic deafness
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39

Reviewed By Expert Panel

CA252231

rs_121912599

12 SubmittersRCV000002449 RCV000303941 RCV001004780 RCV001074393 RCV000824798 RCV003460406 RCV005007808

NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)

SNV
Germline

Chr1:216247118

Pathogenic

Retinitis pigmentosa 39
Retinitis pigmentosa
Usher syndrome type 2A
Condition: not provided
Retinal dystrophy
Usher syndrome
USH2A-related disorder
Inborn genetic diseases
Autosomal recessive retinitis pigmentosa
Retinitis pigmentosa 39
Usher syndrome type 2A
Ear malformation
See cases

Reviewed By Expert Panel

CA252233

rs_80338902

48 SubmittersRCV000002450 RCV000032523 RCV000174625 RCV000239000 RCV000504814 RCV000505146 RCV000404009 RCV000623925 RCV001257905 RCV001535506 RCV001813938 RCV002251859

NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)

SNV
Germline

Chr1:215728232

Pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Congenital sensorineural hearing impairment
Hearing impairment
Condition: not provided
Retinitis pigmentosa
Rare genetic deafness
Usher syndrome
Usher syndrome type 2
Retinal dystrophy
USH2A-related disorder
Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome type 3A
Usher syndrome
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA252235

rs_111033364

35 SubmittersRCV000002451 RCV000412373 RCV000415089 RCV000414867 RCV000414231 RCV000504922 RCV000824781 RCV001003260 RCV001074873 RCV001813732 RCV002476913 RCV003314546 RCV003114173 RCV004584307

NM_206933.4(USH2A):c.949C>A (p.Arg317=)

SNV
Germline

Chr1:216325499

Pathogenic

Usher syndrome type 2A
Condition: not provided
Pigmentary retinopathy
Abnormal macular morphology
Retinal pigment epithelial atrophy
Rod-cone dystrophy
Blindness
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39
Rare genetic deafness
Retinal dystrophy
Usher syndrome type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA252237

rs_111033272

20 SubmittersRCV000002452 RCV000412796 RCV000627017 RCV000763297 RCV000984234 RCV000824799 RCV001075725 RCV001199595

NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe)

SNV
Germline

Chr1:216324240

Pathogenic

Usher syndrome type 2A
Condition: not provided
Usher syndrome
USH2A-related disorder
Rare genetic deafness
Retinitis pigmentosa 39
Retinal dystrophy
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA252239

rs_121912600

23 SubmittersRCV000002453 RCV000224697 RCV000504809 RCV000778222 RCV000824795 RCV000984315 RCV001074823 RCV002482817

NM_206933.4(USH2A):c.2209C>T (p.Arg737Ter)

SNV
Germline

Chr1:216247185

Pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Usher syndrome type 2
Rare genetic deafness

Criteria Provided
Multiple Submitters
No Conflicts

CA252242

rs_111033334

12 SubmittersRCV000002456 RCV000002457 RCV000725261 RCV001003279 RCV000824794

NM_015404.4(WHRN):c.2332C>T (p.Arg778Ter)

SNV
Germline

Chr9:114403982

Pathogenic

Autosomal recessive nonsyndromic hearing loss 31
Condition: not provided
Usher syndrome
Usher syndrome type 2D
Autosomal recessive nonsyndromic hearing loss 31

Criteria Provided
Multiple Submitters
No Conflicts

CA252404

rs_137852839

4 SubmittersRCV000002808 RCV001851590 RCV003226155 RCV005411277

NM_015404.4(WHRN):c.307C>T (p.Gln103Ter)

SNV
Germline

Chr9:114504495

Pathogenic

Usher syndrome type 2D

No Assertion Criteria Provided

CA277914

rs_137852840

1 SubmittersRCV000002809

NM_015404.4(WHRN):c.837+1G>A

SNV
Germline

Chr9:114478552

Pathogenic

Usher syndrome type 2D

No Assertion Criteria Provided

CA374621700

rs_2133130286

1 SubmittersRCV000002810

NM_173477.5(USH1G):c.143T>C (p.Leu48Pro)

SNV
Germline

Chr17:74922931

Pathogenic

Usher syndrome type 1G

No Assertion Criteria Provided

CA252487

rs_104894651

1 SubmittersRCV000003048

NM_173477.5(USH1G):c.113G>A (p.Trp38Ter)

SNV
Germline

Chr17:74922961

Pathogenic

Usher syndrome type 1G
Condition: not provided

Criteria Provided
Single Submitter

CA252490

rs_104894652

2 SubmittersRCV000003052 RCV001851599

NM_052995.2(CLRN1):c.300T>G (p.Tyr100Ter)

SNV
Germline

Chr3:150928107

Pathogenic/Likely pathogenic

Usher syndrome type 3
Condition: not provided
Hearing impairment
Retinitis pigmentosa
Retinitis pigmentosa 61
Retinitis pigmentosa 61
Usher syndrome type 3A
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA000001

rs_121908140

14 SubmittersRCV000004642 RCV000724158 RCV001375084 RCV002247246 RCV003466811 RCV002496258

NM_174878.3(CLRN1):c.359T>A (p.Met120Lys)

SNV
Germline

Chr3:150941656

Likely pathogenic

Usher syndrome type 3
Condition: not provided

Criteria Provided
Single Submitter

CA116819

rs_121908141

2 SubmittersRCV000004643 RCV001851649

NM_174878.3(CLRN1):c.449T>C (p.Leu150Pro)

SNV
Germline

Chr3:150928186

Likely pathogenic

Usher syndrome type 3
Retinitis pigmentosa 61

Criteria Provided
Single Submitter

CA116829

rs_121908142

2 SubmittersRCV000004646 RCV003466813

NM_174878.3(CLRN1):c.189C>A (p.Tyr63Ter)

SNV
Germline

Chr3:150972520

Pathogenic

Usher syndrome type 3
Retinitis pigmentosa
Rare genetic deafness
CLRN1-related disorder
Usher syndrome type 3A
Condition: not provided
Retinitis pigmentosa 61
Retinitis pigmentosa 61
Usher syndrome type 3A

Criteria Provided
Multiple Submitters
No Conflicts

CA116834

rs_111033267

12 SubmittersRCV000004647 RCV000505037 RCV000844690 RCV003407275 RCV001376502 RCV001384937 RCV003466814 RCV005031388

NM_174878.3(CLRN1):c.118T>G (p.Cys40Gly)

SNV
Germline

Chr3:150972591

Conflicting classifications of pathogenicity

Usher syndrome type 3
Condition: not provided
Usher syndrome type 3A
Usher syndrome
CLRN1-related disorder
Retinal dystrophy
Retinitis pigmentosa 61
Retinitis pigmentosa 61
Usher syndrome type 3A

Criteria Provided
Conflicting Classifications

CA116839

rs_121908143

14 SubmittersRCV000004649 RCV000414238 RCV001273484 RCV002468960 RCV004754242 RCV001075346 RCV003466815 RCV005031389

NM_022124.6(CDH23):c.4488G>C (p.Gln1496His)

SNV
Germline

Chr10:71739772

Pathogenic

Usher syndrome type 1D
Condition: not provided
Usher syndrome type 1
Pituitary adenoma 5, multiple types

Criteria Provided
Multiple Submitters
No Conflicts

CA253319

rs_121908347

6 SubmittersRCV000005197 RCV001566890 RCV001835621 RCV003472971

NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln)

SNV
Germline

Chr10:71779316

Pathogenic

Usher syndrome type 1D
Condition: not provided
Retinal dystrophy
Usher syndrome type 1
Childhood onset hearing loss
Rare genetic deafness
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Pituitary adenoma 5, multiple types
Usher syndrome
Autosomal recessive nonsyndromic hearing loss 12
Inborn genetic diseases
Pituitary adenoma 5, multiple types
CDH23-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA253321

rs_111033270

18 SubmittersRCV000005198 RCV000254732 RCV001073594 RCV001274889 RCV001328020 RCV000844622 RCV000763215 RCV002222340 RCV002272010 RCV002512799 RCV003472972 RCV004528082

NM_022124.6(CDH23):c.7362+5G>A

SNV
Germline

Chr10:71799634

Pathogenic

Usher syndrome type 1D
Rare genetic deafness
Condition: not provided
Pituitary adenoma 5, multiple types

Criteria Provided
Multiple Submitters
No Conflicts

CA253325

rs_727502931

5 SubmittersRCV000005200 RCV000844693 RCV001851662 RCV003472973

NM_022124.6(CDH23):c.6604G>A (p.Asp2202Asn)

SNV
Germline

Chr10:71793532

Pathogenic/Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 12
Condition: not provided
Pituitary adenoma 5, multiple types
Hearing loss, autosomal recessive
Pituitary adenoma 5, multiple types
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA253328

rs_121908349

7 SubmittersRCV000005202 RCV000818407 RCV003472975 RCV001291219 RCV005041985 RCV001831514 RCV003387716

NM_022124.6(CDH23):c.3880C>T (p.Gln1294Ter)

SNV
Germline

Chr10:71732151

Pathogenic

Usher syndrome type 1D
Hearing loss, autosomal recessive
Condition: not provided

Criteria Provided
Single Submitter

CA253330

rs_121908350

3 SubmittersRCV000005203 RCV001291211 RCV001386699

NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn)

SNV
Germline

Chr10:71793370

Pathogenic/Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 12
Rare genetic deafness
Usher syndrome type 2A
Autosomal recessive nonsyndromic hearing loss 12
Condition: not provided
Usher syndrome type 1
Usher syndrome
Pituitary adenoma 5, multiple types
CDH23-related disorder
Retinal dystrophy
Usher syndrome type 1D
Usher syndrome type 1D
Pituitary adenoma 5, multiple types
Autosomal recessive nonsyndromic hearing loss 12

Criteria Provided
Multiple Submitters
No Conflicts

CA253332

rs_111033271

15 SubmittersRCV000005204 RCV000599622 RCV000710063 RCV000809058 RCV001826421 RCV003987312 RCV003472976 RCV004757097 RCV004814828 RCV004783719 RCV005041986

NM_022124.6(CDH23):c.4021G>A (p.Asp1341Asn)

SNV
Germline

Chr10:71732292

Pathogenic/Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 12
Condition: not provided
Usher syndrome type 1
Pituitary adenoma 5, multiple types
Usher syndrome
Usher syndrome type 1D

Criteria Provided
Multiple Submitters
No Conflicts

CA253334

rs_121908351

9 SubmittersRCV000005205 RCV000436619 RCV001272891 RCV003472977 RCV003492284 RCV005229765

NM_022124.6(CDH23):c.5663T>C (p.Phe1888Ser)

SNV
Germline

Chr10:71785051

Pathogenic

Autosomal recessive nonsyndromic hearing loss 12
Condition: not provided
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA253336

rs_121908352

3 SubmittersRCV000005206 RCV001851663 RCV005430917

NM_022124.6(CDH23):c.719C>T (p.Pro240Leu)

SNV
Germline

Chr10:71570884

Pathogenic

Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Condition: not provided
Usher syndrome type 1
Nonsyndromic genetic hearing loss
Pituitary adenoma 5, multiple types
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Pituitary adenoma 5, multiple types

Reviewed By Expert Panel

CA253338

rs_121908354

10 SubmittersRCV000005211 RCV001106128 RCV001205177 RCV001831515 RCV001261012 RCV002476931 RCV003472978

NM_001384140.1(PCDH15):c.3718-2A>G

SNV
Germline

Chr10:53857265

Pathogenic

Usher syndrome type 1F

Criteria Provided
Single Submitter

CA16044084

rs_1307471318

2 SubmittersRCV000005215

NM_001384140.1(PCDH15):c.7C>T (p.Arg3Ter)

SNV
Germline

Chr10:54664256

Pathogenic

Usher syndrome type 1F
Autosomal recessive nonsyndromic hearing loss 23
Condition: not provided
Rare genetic deafness
Usher syndrome type 1F
Autosomal recessive nonsyndromic hearing loss 23
Usher syndrome type 1D

Criteria Provided
Multiple Submitters
No Conflicts

CA253340

rs_137853001

14 SubmittersRCV000005216 RCV000770851 RCV000808283 RCV000824737 RCV005041988

NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter)

SNV
Germline

Chr10:54317414

Pathogenic

Usher syndrome type 1F
Usher syndrome type 1G
Usher syndrome type 1
Condition: not provided
Usher syndrome type 1D
Usher syndrome type 1F
Autosomal recessive nonsyndromic hearing loss 23
Rare genetic deafness
Autosomal recessive nonsyndromic hearing loss 23
Usher syndrome type 1D
PCDH15-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA253343

rs_111033260

22 SubmittersRCV000005218 RCV000055970 RCV000218809 RCV000269122 RCV000477806 RCV000824735 RCV001004803 RCV001030749 RCV004734497

NM_001384140.1(PCDH15):c.400C>G (p.Arg134Gly)

SNV
Germline

Chr10:54369194

Pathogenic/Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 23
Rare genetic deafness
Usher syndrome type 1F

Criteria Provided
Multiple Submitters
No Conflicts

CA253346

rs_137853003

4 SubmittersRCV000005222 RCV000211736 RCV003234893

NM_001384140.1(PCDH15):c.1940C>G (p.Ser647Ter)

SNV
Germline

Chr10:54090041

Pathogenic

Usher syndrome type 1F

Criteria Provided
Single Submitter

CA253347

rs_137853004

2 SubmittersRCV000005224

NM_153676.4(USH1C):c.216G>A (p.Val72=)

SNV
Germline

Chr11:17531431

Pathogenic

Usher syndrome type 1C
Usher syndrome
Condition: not provided
Usher syndrome type 1
Rare genetic deafness
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 18A
Usher syndrome type 1C
Autosomal recessive nonsyndromic hearing loss 18A
USH1C-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA340349

rs_151045328

17 SubmittersRCV000005450 RCV000504855 RCV000724016 RCV000220605 RCV000824776 RCV000763237 RCV000984012 RCV004755714

NM_153676.4(USH1C):c.36+1G>T

SNV
Germline

Chr11:17544271

Pathogenic

Usher syndrome type 1C

No Assertion Criteria Provided

CA379804970

rs_1403777293

2 SubmittersRCV000005451

NM_153676.4(USH1C):c.91C>T (p.Arg31Ter)

SNV
Germline

Chr11:17533268

Pathogenic

Usher syndrome type 1C
Autosomal recessive nonsyndromic hearing loss 18A
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 18A
Usher syndrome type 1
Usher syndrome type 1C

Criteria Provided
Multiple Submitters
No Conflicts

CA253419

rs_121908370

7 SubmittersRCV000005453 RCV000983994 RCV000595941 RCV000763238

NM_153676.4(USH1C):c.1823C>G (p.Pro608Arg)

SNV
Germline

Chr11:17509546

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 18A
not specified
Condition: not provided
Usher syndrome type 1C
Meniere disease
Retinal dystrophy
Optic atrophy
Usher syndrome type 1
Usher syndrome type 1C
Autosomal recessive nonsyndromic hearing loss 18A

Criteria Provided
Conflicting Classifications

CA142309

rs_41282932

10 SubmittersRCV000005455 RCV000041259 RCV000755427 RCV001276292 RCV001797045 RCV004814837 RCV004814838 RCV005394121

NM_032119.4(ADGRV1):c.6901C>T (p.Gln2301Ter)

SNV
Germline

Chr5:90690991

Pathogenic/Likely pathogenic

Usher syndrome type 2C
Usher syndrome
Condition: not provided
Rare genetic deafness
Febrile seizures, familial, 4
Usher syndrome type 2C

Criteria Provided
Multiple Submitters
No Conflicts

CA253955

rs_121909762

10 SubmittersRCV000007200 RCV000505021 RCV000727026 RCV000844603 RCV000763550

NM_032119.4(ADGRV1):c.18131A>G (p.Tyr6044Cys)

SNV
Germline

Chr5:90985501

Pathogenic

Usher syndrome type 2C

No Assertion Criteria Provided

CA253960

rs_121909763

1 SubmittersRCV000007204

NM_000260.4(MYO7A):c.448C>T (p.Arg150Ter)

SNV
Germline

Chr11:77156069

Pathogenic

Usher syndrome type 1B
Usher syndrome
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 2

Criteria Provided
Multiple Submitters
No Conflicts

CA277957

rs_121965079

5 SubmittersRCV000012621 RCV000036148 RCV001390811 RCV004786253

NM_000260.4(MYO7A):c.700C>T (p.Gln234Ter)

SNV
Germline

Chr11:77156969

Pathogenic

Usher syndrome type 1B
Rare genetic deafness
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 2

Criteria Provided
Multiple Submitters
No Conflicts

CA277959

rs_41298133

9 SubmittersRCV000012622 RCV000036246 RCV000669392 RCV001003081 RCV001390813 RCV001807725

NM_000260.4(MYO7A):c.635G>A (p.Arg212His)

SNV
Germline

Chr11:77156904

Pathogenic/Likely pathogenic

Rare genetic deafness
Usher syndrome type 1B
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2
Condition: not provided
Usher syndrome
Retinal dystrophy
Autosomal recessive nonsyndromic hearing loss 2

Criteria Provided
Multiple Submitters
No Conflicts

CA277961

rs_28934610

13 SubmittersRCV000036232 RCV000012624 RCV000665766 RCV001221383 RCV003389443 RCV001073914 RCV004786254

NM_000260.4(MYO7A):c.634C>T (p.Arg212Cys)

SNV
Germline

Chr11:77156903

Pathogenic/Likely pathogenic

Usher syndrome type 1B
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11

Criteria Provided
Multiple Submitters
No Conflicts

CA277962

rs_121965080

5 SubmittersRCV000012625 RCV001047241 RCV005007838

NM_000260.4(MYO7A):c.731G>C (p.Arg244Pro)

SNV
Germline

Chr11:77157000

Pathogenic

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome

Criteria Provided
Single Submitter

CA121720

rs_121965081

2 SubmittersRCV000012627 RCV003492291

NM_000260.4(MYO7A):c.1797G>A (p.Met599Ile)

SNV
Germline

Chr11:77166162

Pathogenic

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1B

No Assertion Criteria Provided

CA121721

rs_121965082

1 SubmittersRCV000012630 RCV000012631

NM_000260.4(MYO7A):c.1884C>A (p.Cys628Ter)

SNV
Germline

Chr11:77172834

Pathogenic

Usher syndrome type 1B
Condition: not provided

Criteria Provided
Single Submitter

CA277963

rs_121965083

2 SubmittersRCV000012633 RCV002512985

NM_000260.4(MYO7A):c.93C>A (p.Cys31Ter)

SNV
Germline

Chr11:77142783

Pathogenic

Usher syndrome type 1B
Rare genetic deafness
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2
Retinitis pigmentosa
Hearing loss, autosomal recessive
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA277965

rs_35689081

8 SubmittersRCV000012634 RCV000154341 RCV000665804 RCV000787856 RCV001291462 RCV001226256

NM_000260.4(MYO7A):c.1996C>T (p.Arg666Ter)

SNV
Germline

Chr11:77174816

Pathogenic

Usher syndrome type 1B
Rare genetic deafness
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA277967

rs_121965085

8 SubmittersRCV000012635 RCV000151490 RCV000669149 RCV001091731 RCV002490356

NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)

SNV
Germline

Chr11:66526181

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 1
Condition: not provided
Bardet-Biedl syndrome
Retinal dystrophy
Retinitis pigmentosa
Usher syndrome
See cases
BBS1-related disorder
Inborn genetic diseases
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA223760

rs_113624356

54 SubmittersRCV000012926 RCV000082202 RCV000174408 RCV000210319 RCV000504693 RCV000787785 RCV002251900 RCV003390672 RCV002513000 RCV005621849

NM_001384140.1(PCDH15):c.1583T>A (p.Val528Asp)

SNV
Germline

Chr10:54183451

Pathogenic/Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 23
Condition: not provided
Usher syndrome type 1F
Usher syndrome type 1F
Autosomal recessive nonsyndromic hearing loss 23
Usher syndrome type 1D

Criteria Provided
Multiple Submitters
No Conflicts

CA253349

rs_267606932

5 SubmittersRCV000005225 RCV001851963 RCV002513133 RCV005042067

NM_002109.6(HARS1):c.1361A>C (p.Tyr454Ser)

SNV
Germline

Chr5:140674776

Conflicting classifications of pathogenicity

Usher syndrome type 3B
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA277969

rs_387906639

5 SubmittersRCV000022619 RCV000608744 RCV000623702

NM_000260.4(MYO7A):c.652G>A (p.Asp218Asn)

SNV
Germline

Chr11:77156921

Pathogenic/Likely pathogenic

Rare genetic deafness
Autosomal dominant nonsyndromic hearing loss 11
Condition: not provided
Usher syndrome type 1B
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA259686

rs_201539845

10 SubmittersRCV000215956 RCV000022815 RCV000822163 RCV001275897 RCV005007888 RCV002251923

NM_000260.4(MYO7A):c.1184G>A (p.Arg395His)

SNV
Germline

Chr11:77160266

Pathogenic/Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 2
Condition: not provided
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA128772

rs_387906700

4 SubmittersRCV000022817 RCV001852003 RCV003317043

NM_206933.4(USH2A):c.7595-2144A>G

SNV
Germline

Chr1:215891198

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Usher syndrome
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa
Condition: not provided
Usher syndrome type 2
Retinal dystrophy
Retinitis pigmentosa 39
USH2A-related disorder
Rare genetic deafness

Criteria Provided
Multiple Submitters
No Conflicts

CA259896

rs_786200928

25 SubmittersRCV000023700 RCV000505092 RCV000664608 RCV000787740 RCV000814767 RCV001003267 RCV001074209 RCV001376510 RCV001824575 RCV004017262

NM_153676.4(USH1C):c.308G>A (p.Arg103His)

SNV
Germline

Chr11:17531233

Pathogenic/Likely pathogenic

Usher syndrome type 1C
Autosomal recessive nonsyndromic hearing loss 18A
Usher syndrome type 1
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 18A
Usher syndrome type 1C

Criteria Provided
Multiple Submitters
No Conflicts

CA261116

rs_397514500

7 SubmittersRCV000032622 RCV000662094 RCV000662095 RCV001377937 RCV000675046

NM_153676.4(USH1C):c.2227-1G>A

SNV
Germline

Chr11:17501536

Pathogenic

Usher syndrome type 1C

No Assertion Criteria Provided

CA379803667

rs_778110397

1 SubmittersRCV000032623

NM_006383.4(CIB2):c.272T>C (p.Phe91Ser)

SNV
Germline

Chr15:78109309

Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 48
Hearing loss, autosomal recessive
Usher syndrome type 1J
Autosomal recessive nonsyndromic hearing loss 48

Criteria Provided
Single Submitter

CA130456

rs_397515411

3 SubmittersRCV000032887 RCV001291223 RCV002496493

NM_000260.4(MYO7A):c.1097T>C (p.Leu366Pro)

SNV
Germline

Chr11:77160179

Pathogenic/Likely pathogenic

Rare genetic deafness
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided
Retinal dystrophy
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA278619

rs_397516281

6 SubmittersRCV000036037 RCV000666645 RCV001268216 RCV004814936 RCV004955264

NM_000260.4(MYO7A):c.1132C>T (p.Arg378Cys)

SNV
Germline

Chr11:77160214

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Retinal dystrophy
Usher syndrome type 1B
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1
MYO7A-related disorder

Criteria Provided
Conflicting Classifications

CA132196

rs_199818783

10 SubmittersRCV000036039 RCV000665432 RCV001075067 RCV001831624 RCV001247583 RCV001111945 RCV001111946 RCV001111947 RCV004734540

NM_000260.4(MYO7A):c.1200+1G>A

SNV
Germline

Chr11:77160283

Pathogenic/Likely pathogenic

Rare genetic deafness
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA278621

rs_397516283

4 SubmittersRCV000036042 RCV000672265 RCV001852737 RCV005007939

NM_000260.4(MYO7A):c.132+5G>A

SNV
Germline

Chr11:77142827

Conflicting classifications of pathogenicity

Rare genetic deafness
Retinal dystrophy
Usher syndrome type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA278622

rs_397516284

4 SubmittersRCV000036044 RCV000225545 RCV005252708 RCV002513367

NM_000260.4(MYO7A):c.133-7C>T

SNV
Germline

Chr11:77147791

Conflicting classifications of pathogenicity

not specified
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2
Condition: not provided
Usher syndrome type 1B

Criteria Provided
Conflicting Classifications

CA132204

rs_111033221

12 SubmittersRCV000036045 RCV000291242 RCV000339300 RCV000383502 RCV000950439 RCV001275885

NM_000260.4(MYO7A):c.1344-2A>G

SNV
Germline

Chr11:77162118

Pathogenic

Rare genetic deafness
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided
Nonsyndromic genetic hearing loss
Usher syndrome type 1B
Ear malformation

Criteria Provided
Multiple Submitters
No Conflicts

CA278623

rs_111033415

7 SubmittersRCV000036047 RCV000665311 RCV001852738 RCV001544528 RCV001831626 RCV001814023

NM_000260.4(MYO7A):c.1496T>C (p.Ile499Thr)

SNV
Germline

Chr11:77162272

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA132210

rs_397516286

3 SubmittersRCV000036053 RCV000669217 RCV001367505

NM_000260.4(MYO7A):c.1554+8G>A

SNV
Germline

Chr11:77162338

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1B

Criteria Provided
Conflicting Classifications

CA132212

rs_111033227

7 SubmittersRCV000036054 RCV000724629 RCV001112496 RCV001112497 RCV001112498 RCV001276677

NM_000260.4(MYO7A):c.1556G>A (p.Gly519Asp)

SNV
Germline

Chr11:77162854

Pathogenic/Likely pathogenic

Usher syndrome type 1
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2
Condition: not provided
Rare genetic deafness
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1B
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA278629

rs_111033206

8 SubmittersRCV000036055 RCV000669343 RCV000817879 RCV000844714 RCV001262910 RCV001831628 RCV003492341

NM_000260.4(MYO7A):c.1605C>T (p.Asn535=)

SNV
Germline

Chr11:77162903

Conflicting classifications of pathogenicity

not specified
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided
Usher syndrome type 1B

Criteria Provided
Conflicting Classifications

CA132213

rs_111033228

9 SubmittersRCV000036057 RCV000283451 RCV000347843 RCV000402432 RCV000886630 RCV001272492

NM_000260.4(MYO7A):c.1854G>A (p.Leu618=)

SNV
Germline

Chr11:77172804

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA132225

rs_35429535

8 SubmittersRCV000036065 RCV000265173 RCV000324225 RCV000378842 RCV000882335

NM_000260.4(MYO7A):c.1868G>A (p.Arg623His)

SNV
Germline

Chr11:77172818

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided
Usher syndrome type 1B
Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA132227

rs_111033416

7 SubmittersRCV000036066 RCV000664583 RCV000933794 RCV001276681 RCV005003422

NM_000260.4(MYO7A):c.19-1G>A

SNV
Germline

Chr11:77142708

Likely pathogenic

Rare genetic deafness
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA278634

rs_111033426

3 SubmittersRCV000036067 RCV000666110 RCV001852739

NM_000260.4(MYO7A):c.1900C>T (p.Arg634Ter)

SNV
Germline

Chr11:77172850

Pathogenic/Likely pathogenic

Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Rare genetic deafness
Condition: not provided
Usher syndrome type 1B
Retinal dystrophy
Autosomal recessive nonsyndromic hearing loss 2

Criteria Provided
Multiple Submitters
No Conflicts

CA278635

rs_111033180

9 SubmittersRCV000036068 RCV000763275 RCV000844715 RCV001238560 RCV001272497 RCV004814938 RCV005409611

NM_000260.4(MYO7A):c.2002C>T (p.Arg668Cys)

SNV
Germline

Chr11:77174822

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11

Criteria Provided
Conflicting Classifications

CA132231

rs_397516292

7 SubmittersRCV000036072 RCV000489211 RCV001810407 RCV005007941

NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter)

SNV
Germline

Chr11:77174825

Pathogenic

Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome
Condition: not provided
MYO7A-related disorder
Rare genetic deafness
Usher syndrome type 1B

Criteria Provided
Multiple Submitters
No Conflicts

CA278640

rs_111033201

10 SubmittersRCV000036073 RCV000409801 RCV000763277 RCV000504864 RCV000443077 RCV004528175 RCV000844716 RCV001272498

NM_000260.4(MYO7A):c.2122A>G (p.Met708Val)

SNV
Germline

Chr11:77175399

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA132235

rs_397516293

7 SubmittersRCV000036077 RCV000665188 RCV001288311 RCV001578680 RCV001578681 RCV001526753

NM_000260.4(MYO7A):c.2187+1G>A

SNV
Germline

Chr11:77175465

Pathogenic/Likely pathogenic

Rare genetic deafness
Condition: not provided
Usher syndrome type 1
Nonsyndromic genetic hearing loss
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA278645

rs_111033290

10 SubmittersRCV000036079 RCV000519124 RCV001003084 RCV004786305 RCV002477079

NM_000260.4(MYO7A):c.2218C>T (p.Arg740Trp)

SNV
Germline

Chr11:77177579

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Usher syndrome type 1B
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA132237

rs_201234369

6 SubmittersRCV000036080 RCV000666826 RCV001276686 RCV001852742 RCV001112680 RCV001112681 RCV001112682

NM_000260.4(MYO7A):c.2283-1G>T

SNV
Germline

Chr11:77179044

Pathogenic

Usher syndrome type 1
Rare genetic deafness
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided
Usher syndrome type 1B
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA278646

rs_397516295

11 SubmittersRCV000036082 RCV000844717 RCV001329739 RCV000666504 RCV001383209 RCV001831630 RCV004814939

NM_000260.4(MYO7A):c.2283G>A (p.Arg761=)

SNV
Germline

Chr11:77179045

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1
Condition: not provided
Inborn genetic diseases
MYO7A-related disorder
Hearing impairment

Criteria Provided
Conflicting Classifications

CA132241

rs_111033229

7 SubmittersRCV000036083 RCV000264923 RCV000359683 RCV000329331 RCV001041319 RCV004018784 RCV004534754 RCV005624725

NM_000260.4(MYO7A):c.2293C>A (p.Leu765Met)

SNV
Germline

Chr11:77179055

Conflicting classifications of pathogenicity

not specified
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided
Usher syndrome type 1B
Inborn genetic diseases
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2

Criteria Provided
Conflicting Classifications

CA132243

rs_201203036

8 SubmittersRCV000036084 RCV000270954 RCV000326027 RCV000383860 RCV000727020 RCV001276689 RCV004018785 RCV005003423

NM_000260.4(MYO7A):c.2447G>A (p.Arg816His)

SNV
Germline

Chr11:77179814

Conflicting classifications of pathogenicity

not specified
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided
Usher syndrome type 1B

Criteria Provided
Conflicting Classifications

CA132249

rs_148343670

6 SubmittersRCV000036087 RCV000286068 RCV000343328 RCV000404583 RCV000904369 RCV001831631

NM_000260.4(MYO7A):c.2558G>A (p.Arg853His)

SNV
Germline

Chr11:77179925

Likely pathogenic

not specified
Condition: not provided
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Nonsyndromic genetic hearing loss
Autosomal dominant nonsyndromic hearing loss 11
MYO7A-related disorder

Reviewed By Expert Panel

CA132255

rs_111033437

10 SubmittersRCV000036090 RCV000724679 RCV000765015 RCV001004783 RCV000791456 RCV004534755

NM_000260.4(MYO7A):c.2617C>T (p.Arg873Trp)

SNV
Germline

Chr11:77180404

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1B
Meniere disease
MYO7A-related disorder

Criteria Provided
Conflicting Classifications

CA132257

rs_200454015

11 SubmittersRCV000036091 RCV000724180 RCV000988606 RCV001110090 RCV001114121 RCV001276694 RCV001526685 RCV004734541

NM_000260.4(MYO7A):c.2882G>A (p.Gly961Asp)

SNV
Germline

Chr11:77181567

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11
Condition: not provided
Usher syndrome type 1B
Optic atrophy

Criteria Provided
Conflicting Classifications

CA132268

rs_199575418

7 SubmittersRCV000036097 RCV000263497 RCV000316472 RCV000354842 RCV001041392 RCV001831632 RCV004814940

NM_000260.4(MYO7A):c.2886G>C (p.Gln962His)

SNV
Germline

Chr11:77181571

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Hearing impairment
Cone-rod dystrophy

Criteria Provided
Conflicting Classifications

CA132270

rs_200641606

14 SubmittersRCV000036098 RCV000585012 RCV001114199 RCV001114201 RCV001114200 RCV001375324 RCV005625220

NM_000260.4(MYO7A):c.2904G>T (p.Glu968Asp)

SNV
Germline

Chr11:77181589

Likely pathogenic

Rare genetic deafness
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Usher syndrome type 1B
Retinal dystrophy

Reviewed By Expert Panel

CA278647

rs_111033233

7 SubmittersRCV000036100 RCV000414534 RCV001580451 RCV005007942 RCV003114213 RCV004814941

NM_000260.4(MYO7A):c.3042G>T (p.Thr1014=)

SNV
Germline

Chr11:77182088

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Condition: not provided
Usher syndrome type 1B

Criteria Provided
Conflicting Classifications

CA132278

rs_111033507

7 SubmittersRCV000036103 RCV000284666 RCV000328258 RCV000385063 RCV000956980 RCV001826543

NM_000260.4(MYO7A):c.3246G>A (p.Thr1082=)

SNV
Germline

Chr11:77182561

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Condition: not provided
Usher syndrome type 1B

Criteria Provided
Conflicting Classifications

CA132280

rs_35963362

5 SubmittersRCV000036104 RCV000296667 RCV000349362 RCV000402994 RCV000879767 RCV001831633

NM_000260.4(MYO7A):c.3404C>A (p.Ser1135Tyr)

SNV
Germline

Chr11:77184616

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1B

Criteria Provided
Conflicting Classifications

CA132288

rs_376688581

5 SubmittersRCV000036109 RCV000725729 RCV001271745

NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val)

SNV
Germline

Chr11:77184688

Pathogenic/Likely pathogenic

Rare genetic deafness
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 2
Retinal dystrophy
Hearing loss
Usher syndrome type 1B
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Hereditary breast ovarian cancer syndrome
MYO7A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA132291

rs_199897298

17 SubmittersRCV000036110 RCV000312187 RCV000664879 RCV001073977 RCV001270103 RCV001272512 RCV002496550 RCV004541086 RCV004579535

NM_000260.4(MYO7A):c.3508G>A (p.Glu1170Lys)

SNV
Germline

Chr11:77189348

Pathogenic

Rare genetic deafness
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2
Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1
Usher syndrome type 1B
Retinal dystrophy
Hearing loss, autosomal recessive
Condition: not provided
MYO7A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA278649

rs_111033214

10 SubmittersRCV000036112 RCV000664470 RCV000988609 RCV000763278 RCV001826545 RCV001075104 RCV001291476 RCV001385688 RCV004541087

NM_000260.4(MYO7A):c.358C>A (p.Arg120Ser)

SNV
Germline

Chr11:77155979

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided
Usher syndrome type 1B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA132295

rs_397516302

7 SubmittersRCV000036117 RCV000665697 RCV000756411 RCV001831635 RCV005443014

NM_000260.4(MYO7A):c.359G>A (p.Arg120His)

SNV
Germline

Chr11:77155980

Conflicting classifications of pathogenicity

not specified
Retinal dystrophy
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA132297

rs_369493667

6 SubmittersRCV000036118 RCV004814942 RCV001196537 RCV001275889 RCV001785454

NM_000260.4(MYO7A):c.3602G>C (p.Cys1201Ser)

SNV
Germline

Chr11:77189442

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
MYO7A-related disorder

Criteria Provided
Conflicting Classifications

CA132299

rs_117966637

7 SubmittersRCV000036119 RCV000665509 RCV001002751 RCV000937221 RCV001111010 RCV001111011 RCV004734542

NM_000260.4(MYO7A):c.3652G>A (p.Gly1218Arg)

SNV
Germline

Chr11:77190041

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome

Criteria Provided
Conflicting Classifications

CA132301

rs_111033195

3 SubmittersRCV000036120 RCV001852744 RCV003230377

NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln)

SNV
Germline

Chr11:77190108

Pathogenic

Usher syndrome type 1
Condition: not provided
Usher syndrome
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Inborn genetic diseases
Autosomal recessive nonsyndromic hearing loss 2
Retinal dystrophy
Usher syndrome type 1B
MYO7A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA278657

rs_111033178

18 SubmittersRCV000036122 RCV000256123 RCV000504703 RCV000763279 RCV000623302 RCV000984006 RCV001075882 RCV001272514 RCV004528176

NM_000260.4(MYO7A):c.3750+7G>A

SNV
Germline

Chr11:77190146

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1B

Criteria Provided
Conflicting Classifications

CA132304

rs_397516305

4 SubmittersRCV000036125 RCV000726843 RCV001271749

NM_000260.4(MYO7A):c.3750+9G>A

SNV
Germline

Chr11:77190148

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1
Usher syndrome type 1B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA132305

rs_111033252

10 SubmittersRCV000036126 RCV000292943 RCV000332524 RCV000389407 RCV001271750 RCV000724300

NM_000260.4(MYO7A):c.380T>C (p.Ile127Thr)

SNV
Germline

Chr11:77156001

Conflicting classifications of pathogenicity

not specified
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided
MYO7A-related disorder

Criteria Provided
Conflicting Classifications

CA132306

rs_41298131

6 SubmittersRCV000036128 RCV000324036 RCV000267119 RCV000371726 RCV000665330 RCV001034155 RCV004734543

NM_000260.4(MYO7A):c.3978C>T (p.Cys1326=)

SNV
Germline

Chr11:77192104

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11
Condition: not provided
Usher syndrome type 1
MYO7A-related disorder

Criteria Provided
Conflicting Classifications

CA132311

rs_111033376

5 SubmittersRCV000036131 RCV001113089 RCV001114464 RCV000761794 RCV001114465 RCV004734544

NM_000260.4(MYO7A):c.397C>T (p.His133Tyr)

SNV
Germline

Chr11:77156018

Pathogenic/Likely pathogenic

Rare genetic deafness
Condition: not provided
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Usher syndrome type 1
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA278660

rs_111033403

5 SubmittersRCV000036132 RCV001852746 RCV002482971 RCV003987336 RCV004814943

NM_000260.4(MYO7A):c.401T>A (p.Ile134Asn)

SNV
Germline

Chr11:77156022

Pathogenic

Rare genetic deafness
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Retinal dystrophy
Usher syndrome
Condition: not provided
MYO7A-related disorder
Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1

Reviewed By Expert Panel

CA278663

rs_111033181

8 SubmittersRCV000036134 RCV000673536 RCV001074683 RCV001775073 RCV001231996 RCV004528177 RCV005007943

NM_000260.4(MYO7A):c.4074C>T (p.Ser1358=)

SNV
Germline

Chr11:77192200

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1
Condition: not provided
Cohen syndrome
Usher syndrome type 1B

Criteria Provided
Conflicting Classifications

CA132315

rs_78996818

9 SubmittersRCV000036137 RCV000261940 RCV000386752 RCV000319840 RCV000963474 RCV001449923 RCV001273497

NM_000260.4(MYO7A):c.4293G>A (p.Trp1431Ter)

SNV
Germline

Chr11:77194494

Pathogenic/Likely pathogenic

Rare genetic deafness
Retinal dystrophy
Condition: not provided
Usher syndrome type 1B

Criteria Provided
Multiple Submitters
No Conflicts

CA278665

rs_397516308

4 SubmittersRCV000036140 RCV001075167 RCV001852747 RCV001835644

NM_000260.4(MYO7A):c.4360G>A (p.Val1454Ile)

SNV
Germline

Chr11:77197517

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA132320

rs_397516309

4 SubmittersRCV000036141 RCV000666151 RCV000988612 RCV001244369

NM_000260.4(MYO7A):c.4442-2A>C

SNV
Germline

Chr11:77198493

Likely pathogenic

Condition: not provided
Usher syndrome type 1B
Rare genetic deafness

Criteria Provided
Multiple Submitters
No Conflicts

CA278669

rs_111033337

3 SubmittersRCV001379547 RCV005606638 RCV000036144

NM_000260.4(MYO7A):c.4450C>T (p.Leu1484Phe)

SNV
Germline

Chr11:77198503

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Condition: not provided
Usher syndrome type 1B
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11

Criteria Provided
Conflicting Classifications

CA132324

rs_200416912

10 SubmittersRCV000036145 RCV000778344 RCV001113191 RCV001113192 RCV001239874 RCV001273499 RCV005394219

NM_000260.4(MYO7A):c.4461C>T (p.Asn1487=)

SNV
Germline

Chr11:77198514

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Condition: not provided
Usher syndrome type 1B

Criteria Provided
Conflicting Classifications

CA132326

rs_56174006

10 SubmittersRCV000036146 RCV000391381 RCV000291934 RCV000344591 RCV000959206 RCV001273500

NM_000260.4(MYO7A):c.4471G>A (p.Val1491Met)

SNV
Germline

Chr11:77198524

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Inborn genetic diseases
Usher syndrome type 1B

Criteria Provided
Conflicting Classifications

CA132328

rs_369768947

5 SubmittersRCV000036147 RCV001241478 RCV004018786 RCV001826548

NM_000260.4(MYO7A):c.449G>A (p.Arg150Gln)

SNV
Germline

Chr11:77156070

Conflicting classifications of pathogenicity

not specified
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
Usher syndrome type 1
Usher syndrome type 1B
Retinal dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA132330

rs_202245413

9 SubmittersRCV000036149 RCV000765012 RCV001109455 RCV001109456 RCV001109457 RCV001275891 RCV004814944 RCV001241133

NM_000260.4(MYO7A):c.4577G>A (p.Arg1526His)

SNV
Germline

Chr11:77199543

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA132333

rs_397516311

5 SubmittersRCV000036152 RCV001108928 RCV001108929 RCV001108927 RCV001831636 RCV002513374

NM_000260.4(MYO7A):c.4619C>T (p.Ala1540Val)

SNV
Germline

Chr11:77199585

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11

Criteria Provided
Conflicting Classifications

CA132337

rs_111033511

7 SubmittersRCV000036155 RCV000926624 RCV001578683 RCV001526433 RCV001578682

NM_000260.4(MYO7A):c.4620G>A (p.Ala1540=)

SNV
Germline

Chr11:77199586

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Condition: not provided
MYO7A-related disorder

Criteria Provided
Conflicting Classifications

CA132339

rs_41298745

7 SubmittersRCV000036156 RCV000319034 RCV000359709 RCV000263890 RCV000967226 RCV004541088

NM_000260.4(MYO7A):c.4698G>A (p.Thr1566=)

SNV
Germline

Chr11:77199664

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1
Condition: not provided
Usher syndrome type 1B

Criteria Provided
Conflicting Classifications

CA132347

rs_200207753

5 SubmittersRCV000036160 RCV000290552 RCV000350236 RCV000393918 RCV000879068 RCV001831637

NM_000260.4(MYO7A):c.4821T>A (p.Tyr1607Ter)

SNV
Germline

Chr11:77199787

Pathogenic

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Usher syndrome
Usher syndrome type 1B
Condition: not provided
Rare genetic deafness

Criteria Provided
Multiple Submitters
No Conflicts

CA278674

rs_397516315

5 SubmittersRCV000670662 RCV004799757 RCV005606639 RCV001201930 RCV000036166

NM_000260.4(MYO7A):c.494C>T (p.Thr165Met)

SNV
Germline

Chr11:77156683

Pathogenic/Likely pathogenic

Rare genetic deafness
Autosomal recessive nonsyndromic hearing loss 2
Condition: not provided
Retinal dystrophy
Usher syndrome type 1B
MYO7A-related disorder
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11

Criteria Provided
Multiple Submitters
No Conflicts

CA278676

rs_111033174

9 SubmittersRCV000036169 RCV000666360 RCV000434773 RCV004814946 RCV001826551 RCV004734546 RCV005003426

NM_000260.4(MYO7A):c.4992C>T (p.Thr1664=)

SNV
Germline

Chr11:77201587

Conflicting classifications of pathogenicity

not specified
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided
Usher syndrome type 1B

Criteria Provided
Conflicting Classifications

CA132365

rs_181573957

6 SubmittersRCV000036173 RCV000274957 RCV000330070 RCV000383514 RCV000904370 RCV001835645

NM_000260.4(MYO7A):c.5101C>T (p.Arg1701Ter)

SNV
Germline

Chr11:77202357

Pathogenic

Rare genetic deafness
Retinal dystrophy
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2
Condition: not provided
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA278678

rs_111033182

7 SubmittersRCV000036175 RCV001074879 RCV000673155 RCV001807757 RCV001852749 RCV004546419 RCV005003427

NM_000260.4(MYO7A):c.5108C>T (p.Ala1703Val)

SNV
Germline

Chr11:77202364

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1
Condition: not provided
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1B
MYO7A-related disorder

Criteria Provided
Conflicting Classifications

CA132369

rs_199561332

9 SubmittersRCV000036176 RCV000306975 RCV000724217 RCV000366371 RCV000404997 RCV001272803 RCV004534757

NM_000260.4(MYO7A):c.510G>A (p.Leu170=)

SNV
Germline

Chr11:77156699

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1B
MYO7A-related disorder
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA132371

rs_34477144

11 SubmittersRCV000036177 RCV000839307 RCV001111776 RCV001831639 RCV004541089 RCV001111775 RCV001111777

NM_000260.4(MYO7A):c.5227C>T (p.Arg1743Trp)

SNV
Germline

Chr11:77203118

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Condition: not provided
Usher syndrome type 1B
MYO7A-related disorder
Autosomal recessive nonsyndromic hearing loss 2

Criteria Provided
Conflicting Classifications

CA132381

rs_111033287

11 SubmittersRCV000036183 RCV000286019 RCV000391447 RCV000723623 RCV001272808 RCV004534758 RCV000988615

NM_000260.4(MYO7A):c.5392C>T (p.Gln1798Ter)

SNV
Germline

Chr11:77204141

Pathogenic

Rare genetic deafness
Condition: not provided
Retinal dystrophy
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1B
Usher syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA278682

rs_397516317

9 SubmittersRCV000036187 RCV000413379 RCV001074754 RCV000669320 RCV001273512 RCV004786307

NM_000260.4(MYO7A):c.5481-14G>A

SNV
Germline

Chr11:77205448

Conflicting classifications of pathogenicity

not specified
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA132385

rs_113075052

3 SubmittersRCV000036188 RCV000267858 RCV000321752 RCV000357815 RCV001520332

NM_000260.4(MYO7A):c.5573T>C (p.Leu1858Pro)

SNV
Germline

Chr11:77205554

Pathogenic/Likely pathogenic

Rare genetic deafness
Autosomal recessive nonsyndromic hearing loss 2
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
MYO7A-related disorder
Retinal dystrophy
Usher syndrome type 1B

Criteria Provided
Multiple Submitters
No Conflicts

CA278684

rs_368657015

13 SubmittersRCV000036193 RCV000668342 RCV001268401 RCV000763283 RCV004528178 RCV004814948 RCV001273514

NM_000260.4(MYO7A):c.5598C>T (p.Leu1866=)

SNV
Germline

Chr11:77205579

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Condition: not provided
Usher syndrome type 1B

Criteria Provided
Conflicting Classifications

CA132394

rs_111033504

7 SubmittersRCV000036195 RCV000287528 RCV000322968 RCV000382284 RCV000956982 RCV001826552

NM_000260.4(MYO7A):c.5617C>T (p.Arg1873Trp)

SNV
Germline

Chr11:77205598

Pathogenic

Rare genetic deafness
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Usher syndrome type 1B
Usher syndrome
Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA278686

rs_397516321

8 SubmittersRCV000036196 RCV001069199 RCV000668897 RCV001826553 RCV003323370 RCV005003428

NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln)

SNV
Germline

Chr11:77205599

Pathogenic

Rare genetic deafness
Usher syndrome
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 2
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11

Reviewed By Expert Panel

CA278687

rs_397516322

9 SubmittersRCV000036197 RCV001089676 RCV000594226 RCV000672711 RCV002504884

NM_000260.4(MYO7A):c.5619G>A (p.Arg1873=)

SNV
Germline

Chr11:77205600

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA132395

rs_45450893

6 SubmittersRCV000036198 RCV000293847 RCV000328473 RCV000383003 RCV001273515 RCV001518734

NM_000260.4(MYO7A):c.5648G>A (p.Arg1883Gln)

SNV
Germline

Chr11:77206108

Pathogenic/Likely pathogenic

Usher syndrome type 1
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 2
Rare genetic deafness
Usher syndrome type 1B
Usher syndrome
Retinal dystrophy
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
MYO7A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA278689

rs_111033215

13 SubmittersRCV000036199 RCV000413954 RCV000983988 RCV000844722 RCV001273516 RCV004782029 RCV004814949 RCV005007945 RCV004734547

NM_000260.4(MYO7A):c.5660C>T (p.Pro1887Leu)

SNV
Germline

Chr11:77206120

Pathogenic/Likely pathogenic

Rare genetic deafness
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided
Hearing loss, autosomal recessive
Usher syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA278690

rs_199606180

8 SubmittersRCV000036200 RCV000669133 RCV001223334 RCV001291104 RCV001376326

NM_000260.4(MYO7A):c.5804T>C (p.Leu1935Pro)

SNV
Germline

Chr11:77207350

Likely pathogenic

Rare genetic deafness
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided
Retinal dystrophy
Usher syndrome
Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1

Reviewed By Expert Panel

CA278691

rs_397516323

6 SubmittersRCV000036203 RCV000675068 RCV002513375 RCV001074201 RCV001252670 RCV005007946

NM_000260.4(MYO7A):c.5824G>A (p.Gly1942Arg)

SNV
Germline

Chr11:77207370

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided
Usher syndrome
Usher syndrome type 1B
MYO7A-related disorder
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11

Criteria Provided
Conflicting Classifications

CA132400

rs_111033192

10 SubmittersRCV000036204 RCV000671433 RCV001531119 RCV003389444 RCV001826554 RCV004545738 RCV005007947

NM_000260.4(MYO7A):c.5824G>T (p.Gly1942Ter)

SNV
Germline

Chr11:77207370

Pathogenic/Likely pathogenic

Rare genetic deafness
Usher syndrome type 1
Condition: not provided
Usher syndrome type 1B
MYO7A-related disorder
Retinal dystrophy
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11

Criteria Provided
Multiple Submitters
No Conflicts

CA278693

rs_111033192

12 SubmittersRCV000036205 RCV000665920 RCV001204875 RCV001831641 RCV004528179 RCV004814950 RCV005007948

NM_000260.4(MYO7A):c.5866G>A (p.Val1956Ile)

SNV
Germline

Chr11:77208439

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Usher syndrome type 1B

Criteria Provided
Conflicting Classifications

CA132407

rs_142293185

12 SubmittersRCV000036210 RCV000369786 RCV000277461 RCV000312785 RCV000963284 RCV000669735 RCV001831642

NM_000260.4(MYO7A):c.5904C>T (p.His1968=)

SNV
Germline

Chr11:77208477

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1
Condition: not provided
Usher syndrome type 1B

Criteria Provided
Conflicting Classifications

CA132410

rs_41298753

8 SubmittersRCV000036214 RCV000284213 RCV000341592 RCV000376857 RCV000898379 RCV001272817

NM_000260.4(MYO7A):c.6070C>T (p.Arg2024Ter)

SNV
Germline

Chr11:77211170

Pathogenic

Usher syndrome type 1
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2
Rare genetic deafness
Condition: not provided
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA278705

rs_111033198

8 SubmittersRCV000036223 RCV000665987 RCV000844725 RCV001210670 RCV002496554 RCV004814951

NM_000260.4(MYO7A):c.6165C>T (p.Ser2055=)

SNV
Germline

Chr11:77211265

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA132420

rs_397516327

6 SubmittersRCV000036224 RCV001272821 RCV000726540

NM_000260.4(MYO7A):c.6209G>A (p.Arg2070Gln)

SNV
Germline

Chr11:77211309

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1B
MYO7A-related disorder

Criteria Provided
Conflicting Classifications

CA132424

rs_397516328

5 SubmittersRCV000036226 RCV001038973 RCV001831644 RCV004734548

NM_000260.4(MYO7A):c.6214G>A (p.Val2072Ile)

SNV
Germline

Chr11:77211314

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA132426

rs_200313391

6 SubmittersRCV000036227 RCV000263244 RCV000320711 RCV000379059 RCV000515066

NM_000260.4(MYO7A):c.631A>G (p.Ser211Gly)

SNV
Germline

Chr11:77156900

Pathogenic

Usher syndrome
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Usher syndrome type 1B
Retinal dystrophy
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Condition: not provided

Reviewed By Expert Panel

CA278707

rs_111033486

9 SubmittersRCV000036230 RCV000675104 RCV001275896 RCV001073506 RCV002496555 RCV001852751

NM_000260.4(MYO7A):c.640G>A (p.Gly214Arg)

SNV
Germline

Chr11:77156909

Pathogenic/Likely pathogenic

Rare genetic deafness
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1B
Usher syndrome
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA278709

rs_111033283

10 SubmittersRCV000036233 RCV000667735 RCV001003080 RCV000724325 RCV000515404 RCV001835646 RCV003389445 RCV004814952

NM_000260.4(MYO7A):c.6439-2A>G

SNV
Germline

Chr11:77213858

Pathogenic/Likely pathogenic

Rare genetic deafness
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Usher syndrome type 1B
Condition: not provided
Retinal dystrophy
Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1
MYO7A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA278710

rs_397516330

9 SubmittersRCV000036235 RCV000664694 RCV001275537 RCV001208546 RCV004814953 RCV005007949 RCV004528180

NM_000260.4(MYO7A):c.6519C>T (p.Asn2173=)

SNV
Germline

Chr11:77213940

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1
Condition: not provided
Usher syndrome type 1B

Criteria Provided
Conflicting Classifications

CA132436

rs_111033230

8 SubmittersRCV000036237 RCV000300484 RCV000357524 RCV000402816 RCV000992408 RCV001831645

NM_000260.4(MYO7A):c.6560G>A (p.Gly2187Asp)

SNV
Germline

Chr11:77214608

Likely pathogenic

Usher syndrome
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Usher syndrome type 1B

Reviewed By Expert Panel

CA278713

rs_397516332

4 SubmittersRCV000036241 RCV000675126 RCV001275540

NM_000260.4(MYO7A):c.687C>T (p.Gly229=)

SNV
Germline

Chr11:77156956

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1
Usher syndrome type 1B

Criteria Provided
Conflicting Classifications

CA132447

rs_371142158

7 SubmittersRCV000036245 RCV000906062 RCV001109574 RCV001111838 RCV001111839 RCV001831646

NM_000260.4(MYO7A):c.722G>A (p.Arg241His)

SNV
Germline

Chr11:77156991

Pathogenic/Likely pathogenic

Rare genetic deafness
Inborn genetic diseases
Hearing loss, autosomal recessive
Condition: not provided
Usher syndrome
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA278714

rs_111033284

7 SubmittersRCV000036247 RCV000622429 RCV001291466 RCV001852752 RCV003323371 RCV004814954

NM_000260.4(MYO7A):c.999T>G (p.Tyr333Ter)

SNV
Germline

Chr11:77158426

Pathogenic

Rare genetic deafness
Autosomal recessive nonsyndromic hearing loss 2
Condition: not provided
Retinal dystrophy
Usher syndrome type 1B
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11

Criteria Provided
Multiple Submitters
No Conflicts

CA278716

rs_111033285

8 SubmittersRCV000036253 RCV000670120 RCV000421042 RCV001075598 RCV001275899 RCV005003429

NM_000260.4(MYO7A):c.3474C>T (p.Ile1158=)

SNV
Germline

Chr11:77184686

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11
MYO7A-related disorder

Criteria Provided
Conflicting Classifications

CA133236

rs_201834743

6 SubmittersRCV000036930 RCV000664754 RCV000910290 RCV001110261 RCV001110259 RCV001110260 RCV004734549

NM_022124.6(CDH23):c.2970C>T (p.Asp990=)

SNV
Germline

Chr10:71706913

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Condition: not provided
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA133595

rs_56216952

9 SubmittersRCV000037086 RCV000329264 RCV000381475 RCV000881810 RCV001831652

NM_022124.6(CDH23):c.1096G>A (p.Ala366Thr)

SNV
Germline

Chr10:71617355

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1D
Condition: not provided
Nonsyndromic genetic hearing loss
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 12
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA133607

rs_143282422

16 SubmittersRCV000037090 RCV001105079 RCV000513678 RCV001544539 RCV001826559 RCV001105080 RCV004814955

NM_015404.4(WHRN):c.1135C>T (p.Arg379Trp)

SNV
Germline

Chr9:114426242

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 2D
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 31

Criteria Provided
Conflicting Classifications

CA136858

rs_56059137

8 SubmittersRCV000038859 RCV001165949 RCV000886961 RCV001165950

NM_015404.4(WHRN):c.1149C>T (p.Thr383=)

SNV
Germline

Chr9:114426228

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2D
Autosomal recessive nonsyndromic hearing loss 31

Criteria Provided
Conflicting Classifications

CA136860

rs_149558159

5 SubmittersRCV000038860 RCV000898456 RCV001165945 RCV001165946

NM_015404.4(WHRN):c.1349G>A (p.Arg450His)

SNV
Germline

Chr9:114424401

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 31
Usher syndrome type 2D
Autosomal recessive nonsyndromic hearing loss 31
Usher syndrome type 2D

Criteria Provided
Conflicting Classifications

CA136870

rs_200377723

6 SubmittersRCV000038866 RCV001206517 RCV001168064 RCV001168063 RCV004720233

NM_015404.4(WHRN):c.1365T>C (p.Ser455=)

SNV
Germline

Chr9:114424385

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 2D
Autosomal recessive nonsyndromic hearing loss 31
Condition: not provided

Criteria Provided
Conflicting Classifications

CA136878

rs_111033459

8 SubmittersRCV000038870 RCV000259971 RCV000361686 RCV000723649

NM_015404.4(WHRN):c.1454C>T (p.Pro485Leu)

SNV
Germline

Chr9:114423486

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 31
Usher syndrome type 2D

Criteria Provided
Conflicting Classifications

CA136881

rs_79572315

8 SubmittersRCV000038872 RCV000888343 RCV001165874 RCV001165873

NM_015404.4(WHRN):c.1608C>G (p.Thr536=)

SNV
Germline

Chr9:114423332

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 31
Usher syndrome type 2D
Condition: not provided
WHRN-related disorder

Criteria Provided
Conflicting Classifications

CA136889

rs_139337135

6 SubmittersRCV000038876 RCV000344960 RCV000393005 RCV000897458 RCV004757957

NM_015404.4(WHRN):c.191C>A (p.Ala64Asp)

SNV
Germline

Chr9:114504611

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 2D
Autosomal recessive nonsyndromic hearing loss 31
Usher syndrome type 2D
Autosomal recessive nonsyndromic hearing loss 31
Condition: not provided

Criteria Provided
Conflicting Classifications

CA136900

rs_146655362

6 SubmittersRCV000038882 RCV000291435 RCV000346369 RCV000477861 RCV000723700

NM_015404.4(WHRN):c.2046G>C (p.Arg682=)

SNV
Germline

Chr9:114406545

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 2D
Autosomal recessive nonsyndromic hearing loss 31
Condition: not provided

Criteria Provided
Conflicting Classifications

CA136902

rs_35258467

5 SubmittersRCV000038883 RCV000348525 RCV000393736 RCV000839194

NM_015404.4(WHRN):c.229A>T (p.Thr77Ser)

SNV
Germline

Chr9:114504573

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 31
Usher syndrome type 2D

Criteria Provided
Conflicting Classifications

CA136910

rs_56204273

7 SubmittersRCV000038889 RCV000514950 RCV001167578 RCV001167579

NM_015404.4(WHRN):c.2354C>T (p.Thr785Ile)

SNV
Germline

Chr9:114403960

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 31
Usher syndrome type 2D
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA136914

rs_201555289

5 SubmittersRCV000038891 RCV001169715 RCV001169716 RCV001204993 RCV004814959

NM_015404.4(WHRN):c.2439G>A (p.Thr813=)

SNV
Germline

Chr9:114403319

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 2D
Autosomal recessive nonsyndromic hearing loss 31
Condition: not provided

Criteria Provided
Conflicting Classifications

CA136918

rs_61743618

5 SubmittersRCV000038893 RCV000305815 RCV000391031 RCV000839195

NM_015404.4(WHRN):c.33C>G (p.Ser11Arg)

SNV
Germline

Chr9:114504769

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Retinitis pigmentosa-deafness syndrome
Autosomal recessive nonsyndromic hearing loss 31
Usher syndrome type 2D

Criteria Provided
Conflicting Classifications

CA136922

rs_45527543

8 SubmittersRCV000038895 RCV000725335 RCV000988244 RCV001168207 RCV001168208

NM_015404.4(WHRN):c.667C>T (p.Arg223Cys)

SNV
Germline

Chr9:114478723

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2D
Autosomal recessive nonsyndromic hearing loss 31

Criteria Provided
Conflicting Classifications

CA136926

rs_76593842

5 SubmittersRCV000038898 RCV000961958 RCV001166012 RCV001166013

NM_015404.4(WHRN):c.668G>A (p.Arg223His)

SNV
Germline

Chr9:114478722

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 31
Usher syndrome type 2D
Condition: not provided

Criteria Provided
Conflicting Classifications

CA136928

rs_146273185

6 SubmittersRCV000038899 RCV000279685 RCV000316099 RCV000839182

NM_022124.6(CDH23):c.1068C>T (p.Ala356=)

SNV
Germline

Chr10:71617327

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 12
Condition: not provided
Usher syndrome type 1D

Criteria Provided
Conflicting Classifications

CA137254

rs_141247813

4 SubmittersRCV000039093 RCV001105076 RCV000902946 RCV001105075

NM_022124.6(CDH23):c.1307G>A (p.Ser436Asn)

SNV
Germline

Chr10:71646475

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1
CDH23-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA137265

rs_111033369

13 SubmittersRCV000039099 RCV000264246 RCV000359188 RCV001826563 RCV004534821 RCV000755902

NM_022124.6(CDH23):c.1446C>A (p.Val482=)

SNV
Germline

Chr10:71646614

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1
CDH23-related disorder

Criteria Provided
Conflicting Classifications

CA137274

rs_200324241

6 SubmittersRCV000039102 RCV000726725 RCV001275926 RCV004757116

NM_022124.6(CDH23):c.1472C>T (p.Thr491Ile)

SNV
Germline

Chr10:71675134

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 12
Condition: not provided
Usher syndrome type 1D

Criteria Provided
Conflicting Classifications

CA137283

rs_397517307

5 SubmittersRCV000039106 RCV001103252 RCV001288115 RCV001103251

NM_022124.6(CDH23):c.1584C>T (p.Arg528=)

SNV
Germline

Chr10:71677525

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Condition: not provided
Usher syndrome type 1
CDH23-related disorder

Criteria Provided
Conflicting Classifications

CA137291

rs_397517309

4 SubmittersRCV000039110 RCV000349509 RCV000388867 RCV000941887 RCV001831655 RCV004528186

NM_022124.6(CDH23):c.1637G>A (p.Arg546Gln)

SNV
Germline

Chr10:71677578

Conflicting classifications of pathogenicity

not specified
Condition: not provided
CDH23-related disorder
Inborn genetic diseases
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA137295

rs_199508694

6 SubmittersRCV000039112 RCV001042981 RCV004757118 RCV003278657 RCV001826564

NM_022124.6(CDH23):c.1665C>T (p.Asn555=)

SNV
Germline

Chr10:71677606

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Condition: not provided
Usher syndrome type 1
CDH23-related disorder

Criteria Provided
Conflicting Classifications

CA137297

rs_397517310

4 SubmittersRCV000039113 RCV000302283 RCV000357158 RCV001475080 RCV001831656 RCV004528187

NM_022124.6(CDH23):c.1814C>T (p.Ala605Val)

SNV
Germline

Chr10:71679448

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Condition: not provided
Usher syndrome type 1
Usher syndrome
CDH23-related disorder

Criteria Provided
Conflicting Classifications

CA137303

rs_201475055

9 SubmittersRCV000039116 RCV000285125 RCV000340118 RCV000882018 RCV001275932 RCV003389446 RCV004528188

NM_022124.6(CDH23):c.2239C>T (p.Arg747Cys)

SNV
Germline

Chr10:71694209

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Condition: not provided
Pituitary adenoma 5, multiple types
Usher syndrome type 1
CDH23-related disorder

Criteria Provided
Conflicting Classifications

CA137315

rs_200649500

13 SubmittersRCV000039123 RCV000283099 RCV000377652 RCV000755905 RCV001197523 RCV001275938 RCV004534824

NM_022124.6(CDH23):c.2337G>A (p.Lys779=)

SNV
Germline

Chr10:71695465

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Condition: not provided
Usher syndrome type 1
CDH23-related disorder

Criteria Provided
Conflicting Classifications

CA137324

rs_111033461

7 SubmittersRCV000039128 RCV000270255 RCV000309836 RCV000888827 RCV001831658 RCV004528190

NM_022124.6(CDH23):c.2572G>A (p.Val858Ile)

SNV
Germline

Chr10:71702196

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Condition: not provided
Usher syndrome type 1
CDH23-related disorder
VATER association

Criteria Provided
Conflicting Classifications

CA137330

rs_181275139

10 SubmittersRCV000039131 RCV000294284 RCV000349179 RCV000887995 RCV001275943 RCV004534825 RCV005625228

NM_022124.6(CDH23):c.2830A>G (p.Ser944Gly)

SNV
Germline

Chr10:71705007

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA137338

rs_188098974

8 SubmittersRCV000039135 RCV000585571 RCV001106481 RCV001106482 RCV001831659

NM_022124.6(CDH23):c.2878G>A (p.Glu960Lys)

SNV
Germline

Chr10:71705055

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Usher syndrome type 1
CDH23-related disorder

Criteria Provided
Conflicting Classifications

CA137342

rs_111033458

12 SubmittersRCV000039137 RCV000488332 RCV001106483 RCV001106484 RCV001272548 RCV004541122

NM_022124.6(CDH23):c.2891G>A (p.Arg964Gln)

SNV
Germline

Chr10:71705068

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1D
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 12
CDH23-related disorder

Criteria Provided
Conflicting Classifications

CA137344

rs_376560330

7 SubmittersRCV000039138 RCV000724091 RCV001106485 RCV001271854 RCV001106486 RCV004534827

NM_022124.6(CDH23):c.3074G>A (p.Gly1025Asp)

SNV
Germline

Chr10:71707017

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1
Childhood onset hearing loss
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Condition: not provided
CDH23-related disorder

Criteria Provided
Conflicting Classifications

CA137352

rs_143179070

13 SubmittersRCV000039141 RCV001272552 RCV001328026 RCV001105453 RCV001105454 RCV000839197 RCV004534828

NM_022124.6(CDH23):c.3133G>T (p.Val1045Leu)

SNV
Germline

Chr10:71709124

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA137358

rs_377100683

4 SubmittersRCV000039143 RCV001243389 RCV001826568

NM_022124.6(CDH23):c.3249G>A (p.Thr1083=)

SNV
Germline

Chr10:71712693

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Condition: not provided
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA137360

rs_79805606

7 SubmittersRCV000039144 RCV000325350 RCV000382245 RCV000967170 RCV001826569

NM_022124.6(CDH23):c.3262G>A (p.Val1088Met)

SNV
Germline

Chr10:71712706

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Pituitary adenoma 5, multiple types
Condition: not provided
Usher syndrome type 1
CDH23-related disorder

Criteria Provided
Conflicting Classifications

CA137362

rs_200632520

10 SubmittersRCV000039145 RCV000324074 RCV000376393 RCV000764914 RCV001041387 RCV001271862 RCV004528191

NM_022124.6(CDH23):c.3331G>A (p.Val1111Ile)

SNV
Germline

Chr10:71712775

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1D
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 12
CDH23-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA137366

rs_397517321

7 SubmittersRCV000039147 RCV000280070 RCV000487639 RCV000406184 RCV004528192 RCV003242971

NM_022124.6(CDH23):c.3361A>T (p.Ile1121Phe)

SNV
Germline

Chr10:71712805

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Retinal dystrophy
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA137370

rs_200542052

7 SubmittersRCV000039149 RCV000724083 RCV001075026 RCV001272560

NM_022124.6(CDH23):c.3364T>G (p.Leu1122Val)

SNV
Germline

Chr10:71712808

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA137372

rs_77821631

6 SubmittersRCV000039150 RCV000965142 RCV001103613 RCV001103614 RCV001831660

NM_022124.6(CDH23):c.3397G>A (p.Glu1133Lys)

SNV
Germline

Chr10:71724072

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1
Pituitary adenoma 5, multiple types
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Pituitary adenoma 5, multiple types

Criteria Provided
Conflicting Classifications

CA137374

rs_111033509

5 SubmittersRCV000039151 RCV001056228 RCV001272885 RCV002483003 RCV003473275

NM_022124.6(CDH23):c.3480G>T (p.Met1160Ile)

SNV
Germline

Chr10:71725421

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12

Criteria Provided
Conflicting Classifications

CA137376

rs_111033519

5 SubmittersRCV000039152 RCV000891539 RCV001105553 RCV001105554

NM_022124.6(CDH23):c.3574G>A (p.Val1192Ile)

SNV
Germline

Chr10:71725515

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA137382

rs_80028391

5 SubmittersRCV000039156 RCV000886092 RCV001106699 RCV001105557 RCV001826570

NM_022124.6(CDH23):c.3619G>A (p.Val1207Met)

SNV
Germline

Chr10:71730508

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA137385

rs_111033488

6 SubmittersRCV000039158 RCV000968181 RCV001108864 RCV001108865 RCV001272887

NM_022124.6(CDH23):c.3801C>T (p.Thr1267=)

SNV
Germline

Chr10:71732072

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA137393

rs_56107171

9 SubmittersRCV000039164 RCV000723699 RCV001103709 RCV001103710 RCV001272566

NM_022124.6(CDH23):c.3845A>G (p.Asn1282Ser)

SNV
Germline

Chr10:71732116

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Usher syndrome type 1
Meniere disease

Criteria Provided
Conflicting Classifications

CA137396

rs_149073355

11 SubmittersRCV000039165 RCV000950191 RCV001103711 RCV001103712 RCV001272567 RCV001797050

NM_022124.6(CDH23):c.3895G>A (p.Val1299Ile)

SNV
Germline

Chr10:71732166

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12

Criteria Provided
Conflicting Classifications

CA137399

rs_201610096

4 SubmittersRCV000039166 RCV001044674 RCV001105662 RCV001105663

NM_022124.6(CDH23):c.3999G>A (p.Val1333=)

SNV
Germline

Chr10:71732270

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA137408

rs_111033453

8 SubmittersRCV000039169 RCV000885396 RCV001105667 RCV001105666 RCV001831664

NM_022124.6(CDH23):c.4045C>T (p.Arg1349Cys)

SNV
Germline

Chr10:71732316

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1
CDH23-related disorder
Intellectual disability

Criteria Provided
Conflicting Classifications

CA137411

rs_41281318

9 SubmittersRCV000039170 RCV000892452 RCV001106789 RCV001106790 RCV001831665 RCV004534830 RCV005625229

NM_022124.6(CDH23):c.4068C>G (p.Thr1356=)

SNV
Germline

Chr10:71732339

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Condition: not provided
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA137416

rs_143136329

8 SubmittersRCV000039172 RCV000358294 RCV000305911 RCV000827160 RCV001831666

NM_022124.6(CDH23):c.4309C>T (p.Arg1437Ter)

SNV
Germline

Chr10:71738597

Pathogenic

Rare genetic deafness
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Pituitary adenoma 5, multiple types
Pituitary adenoma 5, multiple types
Usher syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA261782

rs_397517329

6 SubmittersRCV000039177 RCV000438508 RCV000763214 RCV003473277 RCV001831667

NM_022124.6(CDH23):c.4391C>T (p.Ala1464Val)

SNV
Germline

Chr10:71739675

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Pituitary adenoma 5, multiple types
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Condition: not provided
Usher syndrome type 1
CDH23-related disorder

Criteria Provided
Conflicting Classifications

CA137429

rs_374362883

9 SubmittersRCV000039181 RCV000764918 RCV001106862 RCV001106861 RCV001244548 RCV001273543 RCV004757121

NM_022124.6(CDH23):c.4498T>A (p.Ser1500Thr)

SNV
Germline

Chr10:71740831

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA137431

rs_375641853

4 SubmittersRCV000039182 RCV001246417 RCV001826571 RCV005318317

NM_022124.6(CDH23):c.460G>A (p.Val154Met)

SNV
Germline

Chr10:71566772

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA137437

rs_199741966

5 SubmittersRCV000039185 RCV001047099 RCV001826572 RCV002513527

NM_022124.6(CDH23):c.4620C>T (p.Asn1540=)

SNV
Germline

Chr10:71741696

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA137440

rs_111033490

4 SubmittersRCV000039187 RCV000724264 RCV001272898

NM_022124.6(CDH23):c.4842G>C (p.Leu1614=)

SNV
Germline

Chr10:71741918

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 12
CDH23-related disorder
Usher syndrome type 1D

Criteria Provided
Conflicting Classifications

CA137444

rs_368377560

7 SubmittersRCV000039190 RCV000915057 RCV001104195 RCV004534831 RCV001104194

NM_022124.6(CDH23):c.5009T>A (p.Val1670Asp)

SNV
Germline

Chr10:71777843

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Pituitary adenoma 5, multiple types

Criteria Provided
Conflicting Classifications

CA137450

rs_397517333

5 SubmittersRCV000039193 RCV001039006 RCV001273551 RCV005042113

NM_022124.6(CDH23):c.5026G>A (p.Ala1676Thr)

SNV
Germline

Chr10:71777860

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Condition: not provided
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA137454

rs_56043301

8 SubmittersRCV000039195 RCV000265777 RCV000365175 RCV000843702 RCV001826573

NM_022124.6(CDH23):c.5050C>T (p.Arg1684Cys)

SNV
Germline

Chr10:71777884

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Condition: not provided
Usher syndrome type 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA137456

rs_111033522

6 SubmittersRCV000039196 RCV000317490 RCV000372199 RCV000723750 RCV001273552 RCV002513528

NM_022124.6(CDH23):c.5066T>C (p.Met1689Thr)

SNV
Germline

Chr10:71777900

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Condition: not provided
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA137460

rs_397517334

8 SubmittersRCV000039198 RCV000281904 RCV000318225 RCV000844910 RCV000912043 RCV001272904

NM_022124.6(CDH23):c.510C>T (p.Ser170=)

SNV
Germline

Chr10:71566822

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA137464

rs_143341423

9 SubmittersRCV000039200 RCV000899865 RCV001103057 RCV001104970 RCV001276801

NM_022124.6(CDH23):c.5130C>A (p.Ile1710=)

SNV
Germline

Chr10:71778251

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA137466

rs_111033487

5 SubmittersRCV000039201 RCV000723698 RCV001273554

NM_022124.6(CDH23):c.5272C>T (p.Gln1758Ter)

SNV
Germline

Chr10:71779351

Likely pathogenic

Rare genetic deafness
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Pituitary adenoma 5, multiple types

Criteria Provided
Single Submitter

CA261785

rs_397517337

2 SubmittersRCV000039207 RCV005042114

NM_022124.6(CDH23):c.5297T>C (p.Phe1766Ser)

SNV
Germline

Chr10:71779376

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Condition: not provided
Usher syndrome type 1
CDH23-related disorder

Criteria Provided
Conflicting Classifications

CA137475

rs_114745089

6 SubmittersRCV000039208 RCV000260759 RCV000297276 RCV000755231 RCV001273557 RCV004528193

NM_022124.6(CDH23):c.5410C>T (p.Arg1804Trp)

SNV
Germline

Chr10:71784328

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Pituitary adenoma 5, multiple types
Condition: not provided
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA137483

rs_376271562

5 SubmittersRCV000039212 RCV000764919 RCV000882752 RCV001273560

NM_022124.6(CDH23):c.5523G>A (p.Val1841=)

SNV
Germline

Chr10:71784911

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Condition: not provided

Criteria Provided
Conflicting Classifications

CA137496

rs_369513655

3 SubmittersRCV000039219 RCV001104395 RCV001104396 RCV001425718

NM_022124.6(CDH23):c.5544C>T (p.Asp1848=)

SNV
Germline

Chr10:71784932

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Condition: not provided
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA137500

rs_142131750

11 SubmittersRCV000039221 RCV000298083 RCV000403406 RCV000839604 RCV001275561

NM_022124.6(CDH23):c.5712G>A (p.Thr1904=)

SNV
Germline

Chr10:71785100

Pathogenic/Likely pathogenic

Rare genetic deafness
Usher syndrome type 1
Condition: not provided
CDH23-related disorder
Pituitary adenoma 5, multiple types

Criteria Provided
Multiple Submitters
No Conflicts

CA261788

rs_397517342

5 SubmittersRCV000039224 RCV001826574 RCV001852822 RCV004534833 RCV003473279

NM_022124.6(CDH23):c.5734C>T (p.Arg1912Trp)

SNV
Germline

Chr10:71785652

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hearing impairment
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA137505

rs_397517344

4 SubmittersRCV000039226 RCV001241540 RCV001375123 RCV001826575

NM_022124.6(CDH23):c.5753G>A (p.Arg1918Gln)

SNV
Germline

Chr10:71785671

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Condition: not provided
Usher syndrome type 1
CDH23-related disorder
Cone-rod dystrophy

Criteria Provided
Conflicting Classifications

CA137507

rs_115113440

8 SubmittersRCV000039227 RCV000271728 RCV000325842 RCV000905205 RCV001275564 RCV004528194 RCV005625230

NM_022124.6(CDH23):c.5831T>C (p.Leu1944Ser)

SNV
Germline

Chr10:71788950

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA137509

rs_201876362

5 SubmittersRCV000039228 RCV001835650 RCV002513530 RCV004975268

NM_022124.6(CDH23):c.5937G>A (p.Thr1979=)

SNV
Germline

Chr10:71790301

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1D
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 12

Criteria Provided
Conflicting Classifications

CA137513

rs_397517347

3 SubmittersRCV000039231 RCV001104488 RCV000982067 RCV001104487

NM_022124.6(CDH23):c.6026T>A (p.Leu2009His)

SNV
Germline

Chr10:71790390

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA137517

rs_201067092

5 SubmittersRCV000039233 RCV001826576 RCV004975269 RCV002513531

NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser)

SNV
Germline

Chr10:71790413

Pathogenic/Likely pathogenic

Rare genetic deafness
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Pituitary adenoma 5, multiple types
Condition: not provided
Pituitary adenoma 5, multiple types
Usher syndrome type 1D
CDH23-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA261792

rs_183431253

9 SubmittersRCV000039235 RCV000763216 RCV001377826 RCV003473280 RCV001376240 RCV004757122

NM_022124.6(CDH23):c.6050-9G>A

SNV
Germline

Chr10:71791123

Pathogenic

Rare genetic deafness
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Pituitary adenoma 5, multiple types
Usher syndrome type 1
Hearing loss, autosomal recessive
Pituitary adenoma 5, multiple types
Usher syndrome type 1D
CDH23-related disorder
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA261794

rs_367928692

15 SubmittersRCV000039236 RCV000239237 RCV000763217 RCV001274898 RCV001291215 RCV003473281 RCV005252711 RCV004757123 RCV004814961

NM_022124.6(CDH23):c.6426A>G (p.Leu2142=)

SNV
Germline

Chr10:71793354

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1
CDH23-related disorder

Criteria Provided
Conflicting Classifications

CA137533

rs_371932558

6 SubmittersRCV000039245 RCV000723748 RCV001275575 RCV004534835

NM_022124.6(CDH23):c.6489G>C (p.Leu2163=)

SNV
Germline

Chr10:71793417

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA137535

rs_111033493

4 SubmittersRCV000039247 RCV000724265 RCV001831670

NM_022124.6(CDH23):c.6648C>T (p.Ala2216=)

SNV
Germline

Chr10:71793576

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1D
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 12

Criteria Provided
Conflicting Classifications

CA137543

rs_186394654

8 SubmittersRCV000039251 RCV000488048 RCV001107333 RCV001275577 RCV001104587

NM_022124.6(CDH23):c.6687C>T (p.Asp2229=)

SNV
Germline

Chr10:71793615

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 12
Condition: not provided
Usher syndrome type 1D
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA137545

rs_76463072

6 SubmittersRCV000039252 RCV001107337 RCV000888828 RCV001107336 RCV001826578

NM_022124.6(CDH23):c.6705C>T (p.Ile2235=)

SNV
Germline

Chr10:71793633

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Condition: not provided
Usher syndrome type 1
CDH23-related disorder

Criteria Provided
Conflicting Classifications

CA137548

rs_114827737

7 SubmittersRCV000039254 RCV000351184 RCV000391735 RCV000905206 RCV001274904 RCV004528195

NM_022124.6(CDH23):c.6852G>C (p.Leu2284=)

SNV
Germline

Chr10:71798376

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA137552

rs_56013867

11 SubmittersRCV000039256 RCV000968472 RCV001107987 RCV001107988 RCV001831671

NM_022124.6(CDH23):c.6911G>A (p.Arg2304Gln)

SNV
Germline

Chr10:71798435

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Pituitary adenoma 5, multiple types
Usher syndrome type 1
Condition: not provided
CDH23-related disorder

Criteria Provided
Conflicting Classifications

CA137554

rs_201434373

9 SubmittersRCV000039257 RCV000260501 RCV000353028 RCV000764921 RCV001275584 RCV001244627 RCV004528196

NM_022124.6(CDH23):c.6918G>A (p.Leu2306=)

SNV
Germline

Chr10:71798442

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Condition: not provided
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA137556

rs_146819206

10 SubmittersRCV000039258 RCV001108605 RCV001107989 RCV000881386 RCV001831672

NM_022124.6(CDH23):c.6990G>T (p.Leu2330=)

SNV
Germline

Chr10:71798514

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA137558

rs_111033495

7 SubmittersRCV000039260 RCV000840098 RCV001102754 RCV001102755 RCV001831674

NM_022124.6(CDH23):c.7362G>A (p.Thr2454=)

SNV
Germline

Chr10:71799629

Pathogenic/Likely pathogenic

Rare genetic deafness
Condition: not provided
Usher syndrome type 1
Pituitary adenoma 5, multiple types
Usher syndrome type 1D
Usher syndrome
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA261797

rs_370983472

9 SubmittersRCV000039265 RCV000483242 RCV001274911 RCV003473284 RCV002250505 RCV003330411 RCV004814962

NM_022124.6(CDH23):c.7468G>A (p.Glu2490Lys)

SNV
Germline

Chr10:71800741

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Pituitary adenoma 5, multiple types
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA137571

rs_41281336

14 SubmittersRCV000039268 RCV000725960 RCV000763667 RCV001108080 RCV001108081 RCV001276040

NM_022124.6(CDH23):c.7630T>C (p.Leu2544=)

SNV
Germline

Chr10:71803045

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA137579

rs_114819374

9 SubmittersRCV000039272 RCV000515005 RCV001102866 RCV001102865 RCV001831675

NM_022124.6(CDH23):c.7722C>T (p.Tyr2574=)

SNV
Germline

Chr10:71803270

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Condition: not provided
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA137581

rs_111033483

9 SubmittersRCV000039273 RCV000286793 RCV000378798 RCV000879301 RCV001831676

NM_022124.6(CDH23):c.7762G>C (p.Glu2588Gln)

SNV
Germline

Chr10:71803310

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Usher syndrome type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA137583

rs_41281338

7 SubmittersRCV000039274 RCV001104790 RCV001104789 RCV001826580 RCV001522497

NM_022124.6(CDH23):c.7776G>A (p.Trp2592Ter)

SNV
Germline

Chr10:71803324

Pathogenic

Rare genetic deafness
Condition: not provided
Usher syndrome type 1D

Criteria Provided
Multiple Submitters
No Conflicts

CA261799

rs_397517353

4 SubmittersRCV000039275 RCV001382458 RCV005252712

NM_022124.6(CDH23):c.7823G>A (p.Arg2608His)

SNV
Germline

Chr10:71803371

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa-deafness syndrome
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Rare genetic deafness
Retinal dystrophy
Neurodevelopmental abnormality
Usher syndrome type 1D
Pituitary adenoma 5, multiple types

Criteria Provided
Conflicting Classifications

CA261801

rs_202052174

18 SubmittersRCV000039276 RCV000988383 RCV000725220 RCV001559300 RCV003483451 RCV004017329 RCV004814963 RCV001264702 RCV001374881 RCV003473285

NM_022124.6(CDH23):c.8022G>A (p.Gln2674=)

SNV
Germline

Chr10:71805955

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1
CDH23-related disorder
Usher syndrome type 1D

Criteria Provided
Conflicting Classifications

CA137587

rs_201733315

9 SubmittersRCV000039279 RCV000488300 RCV001105928 RCV001276915 RCV004534836 RCV001105927

NM_022124.6(CDH23):c.8167G>C (p.Val2723Leu)

SNV
Germline

Chr10:71806270

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12

Criteria Provided
Conflicting Classifications

CA137590

rs_142857685

8 SubmittersRCV000039281 RCV000725935 RCV001276044 RCV001108161 RCV001108162

NM_022124.6(CDH23):c.8407G>A (p.Val2803Ile)

SNV
Germline

Chr10:71807614

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA137596

rs_369697366

5 SubmittersRCV000039284 RCV001243714 RCV001276919 RCV002513536

NM_022124.6(CDH23):c.8859C>T (p.Asp2953=)

SNV
Germline

Chr10:71809956

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA137611

rs_11000008

6 SubmittersRCV000039293 RCV000899993 RCV001106039 RCV001106040 RCV001831678

NM_022124.6(CDH23):c.8980-12C>T

SNV
Germline

Chr10:71810460

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Condition: not provided

Criteria Provided
Conflicting Classifications

CA137619

rs_111583276

5 SubmittersRCV000039297 RCV000319834 RCV000367576 RCV000839180

NM_022124.6(CDH23):c.8980-14C>A

SNV
Germline

Chr10:71810458

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1D
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 12

Criteria Provided
Conflicting Classifications

CA137620

rs_45522532

7 SubmittersRCV000039298 RCV001104974 RCV001513504 RCV001104975

NM_022124.6(CDH23):c.9015G>A (p.Ala3005=)

SNV
Germline

Chr10:71810507

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Condition: not provided
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA137625

rs_376497158

7 SubmittersRCV000039301 RCV000380915 RCV000288750 RCV000879426 RCV001276924

NM_022124.6(CDH23):c.9077+7C>T

SNV
Germline

Chr10:71810576

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D

Criteria Provided
Conflicting Classifications

CA137629

rs_76114420

8 SubmittersRCV000039303 RCV000839177 RCV001106135 RCV001106136

NM_022124.6(CDH23):c.9670C>T (p.Arg3224Trp)

SNV
Germline

Chr10:71813280

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Condition: not provided
Usher syndrome type 1
CDH23-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA137645

rs_111033457

12 SubmittersRCV000039315 RCV000286542 RCV000341398 RCV000725356 RCV001272665 RCV004528199 RCV004814964

NM_032119.4(ADGRV1):c.10260C>T (p.Phe3420=)

SNV
Germline

Chr5:90728767

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA137987

rs_113938044

9 SubmittersRCV000039502 RCV001152997 RCV000724542

NM_032119.4(ADGRV1):c.12476A>C (p.His4159Pro)

SNV
Germline

Chr5:90776525

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2C
ADGRV1-related disorder

Criteria Provided
Conflicting Classifications

CA138011

rs_200805176

4 SubmittersRCV000039516 RCV000888279 RCV001157416 RCV004549459

NM_032119.4(ADGRV1):c.12586C>T (p.Pro4196Ser)

SNV
Germline

Chr5:90777963

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2C

Criteria Provided
Conflicting Classifications

CA138013

rs_397517420

3 SubmittersRCV000039517 RCV001042748 RCV001157422

NM_032119.4(ADGRV1):c.14973-2A>G

SNV
Germline

Chr5:90810231

Pathogenic/Likely pathogenic

Rare genetic deafness
Condition: not provided
Retinal dystrophy
Usher syndrome type 2
Usher syndrome type 2C
Usher syndrome
Febrile seizures, familial, 4
Usher syndrome type 2C

Criteria Provided
Multiple Submitters
No Conflicts

CA261833

rs_371981035

8 SubmittersRCV000039531 RCV001041197 RCV001073981 RCV001002859 RCV004786311 RCV003155052 RCV005031476

NM_032119.4(ADGRV1):c.15471C>T (p.Ser5157=)

SNV
Germline

Chr5:90810731

Conflicting classifications of pathogenicity

not specified
Retinal dystrophy
Condition: not provided
Usher syndrome type 2C

Criteria Provided
Conflicting Classifications

CA138045

rs_146082509

6 SubmittersRCV000039535 RCV001074477 RCV000909162 RCV001153321

NM_032119.4(ADGRV1):c.15608A>G (p.Glu5203Gly)

SNV
Germline

Chr5:90810868

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Inborn genetic diseases
Usher syndrome type 2C

Criteria Provided
Conflicting Classifications

CA138047

rs_202106463

9 SubmittersRCV000039536 RCV000724510 RCV002513548 RCV001155929

NM_032119.4(ADGRV1):c.1718G>T (p.Gly573Val)

SNV
Germline

Chr5:90629418

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2
Usher syndrome type 2C
Idiopathic generalized epilepsy
Febrile seizures, familial, 4
ADGRV1-related disorder

Criteria Provided
Conflicting Classifications

CA138067

rs_200789563

12 SubmittersRCV000039546 RCV000513285 RCV001002855 RCV001152886 RCV001839409 RCV004527308 RCV004724764

NM_032119.4(ADGRV1):c.1776C>A (p.Val592=)

SNV
Germline

Chr5:90629476

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2C

Criteria Provided
Conflicting Classifications

CA138071

rs_184127858

6 SubmittersRCV000039549 RCV000725953 RCV001152887

NM_032119.4(ADGRV1):c.17920G>T (p.Ala5974Ser)

SNV
Germline

Chr5:90965478

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Inborn genetic diseases
Usher syndrome type 2

Criteria Provided
Conflicting Classifications

CA138074

rs_397517427

6 SubmittersRCV000039551 RCV000732044 RCV002513549 RCV005357274

NM_032119.4(ADGRV1):c.2398C>T (p.Arg800Ter)

SNV
Germline

Chr5:90642886

Pathogenic

Rare genetic deafness
Usher syndrome type 2C
Febrile seizures, familial, 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA261835

rs_373780305

4 SubmittersRCV000039562 RCV000763549 RCV001582516

NM_032119.4(ADGRV1):c.3151G>T (p.Asp1051Tyr)

SNV
Germline

Chr5:90647626

Conflicting classifications of pathogenicity

not specified
Febrile seizures, familial, 4
Condition: not provided
Usher syndrome type 2C
ADGRV1-related disorder
Intellectual disability

Criteria Provided
Conflicting Classifications

CA138096

rs_145556097

10 SubmittersRCV000039567 RCV000146076 RCV000954913 RCV001151210 RCV004549463 RCV005625231

NM_032119.4(ADGRV1):c.3191A>C (p.Glu1064Ala)

SNV
Germline

Chr5:90647666

Conflicting classifications of pathogenicity

not specified
Febrile seizures, familial, 4
Condition: not provided
Usher syndrome type 2C
Retinitis pigmentosa
ADGRV1-related disorder
Intellectual disability

Criteria Provided
Conflicting Classifications

CA138098

rs_190922596

11 SubmittersRCV000039568 RCV000146077 RCV000954914 RCV001151213 RCV003389449 RCV004549464 RCV005625232

NM_032119.4(ADGRV1):c.3443G>A (p.Gly1148Asp)

SNV
Germline

Chr5:90652372

Conflicting classifications of pathogenicity

not specified
Retinal dystrophy
Condition: not provided
Usher syndrome
Usher syndrome type 2C
Usher syndrome type 2C
Febrile seizures, familial, 4
Usher syndrome type 2
ADGRV1-related disorder

Criteria Provided
Conflicting Classifications

CA138106

rs_200945405

13 SubmittersRCV000039572 RCV001075536 RCV000710447 RCV000504767 RCV001154289 RCV005031477 RCV005357275 RCV004737179

NM_032119.4(ADGRV1):c.3509A>G (p.Tyr1170Cys)

SNV
Germline

Chr5:90652438

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2C
Febrile seizures, familial, 4
Usher syndrome type 2C

Criteria Provided
Conflicting Classifications

CA138110

rs_188772875

10 SubmittersRCV000039574 RCV000514418 RCV000764614 RCV001155118

NM_032119.4(ADGRV1):c.3775T>A (p.Ser1259Thr)

SNV
Germline

Chr5:90653349

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 2C
Febrile seizures, familial, 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA138114

rs_376900429

3 SubmittersRCV000039576 RCV000764615 RCV001852825

NM_032119.4(ADGRV1):c.4032C>T (p.Tyr1344=)

SNV
Germline

Chr5:90653606

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2C

Criteria Provided
Conflicting Classifications

CA138118

rs_376636949

6 SubmittersRCV000039578 RCV000723656 RCV001156784

NM_032119.4(ADGRV1):c.4119G>A (p.Ala1373=)

SNV
Germline

Chr5:90653693

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2C

Criteria Provided
Conflicting Classifications

CA138122

rs_111033484

4 SubmittersRCV000039580 RCV000902347 RCV001156786

NM_032119.4(ADGRV1):c.4214C>T (p.Ser1405Phe)

SNV
Germline

Chr5:90653788

Conflicting classifications of pathogenicity

not specified
Condition: not provided
ADGRV1-related disorder
Retinal dystrophy
Usher syndrome type 2C

Criteria Provided
Conflicting Classifications

CA138124

rs_41305898

10 SubmittersRCV000039581 RCV000723975 RCV004549466 RCV004814966 RCV001151335

NM_032119.4(ADGRV1):c.5221T>C (p.Leu1741=)

SNV
Germline

Chr5:90675353

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2C

Criteria Provided
Conflicting Classifications

CA138139

rs_371831553

10 SubmittersRCV000039589 RCV000728019 RCV001155220

NM_032119.4(ADGRV1):c.5576A>G (p.His1859Arg)

SNV
Germline

Chr5:90681366

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 2C
Febrile seizures, familial, 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA138147

rs_200974394

3 SubmittersRCV000039594 RCV000765842 RCV001423929

NM_032119.4(ADGRV1):c.5785G>T (p.Ala1929Ser)

SNV
Germline

Chr5:90683706

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2C
Usher syndrome type 2
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA138151

rs_41311335

8 SubmittersRCV000039596 RCV000723976 RCV001151458 RCV005357276 RCV004814967

NM_032119.4(ADGRV1):c.6317C>T (p.Ala2106Val)

SNV
Germline

Chr5:90685822

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2C
ADGRV1-related disorder

Criteria Provided
Conflicting Classifications

CA138173

rs_186999408

10 SubmittersRCV000039607 RCV000903694 RCV001155314 RCV004549469

NM_032119.4(ADGRV1):c.6994A>T (p.Ile2332Phe)

SNV
Germline

Chr5:90692647

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 2C
Condition: not provided
ADGRV1-related disorder

Criteria Provided
Conflicting Classifications

CA138188

rs_193030567

10 SubmittersRCV000039615 RCV000987537 RCV000725221 RCV004737181

NM_032119.4(ADGRV1):c.7468G>A (p.Ala2490Thr)

SNV
Germline

Chr5:90694224

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Febrile seizures, familial, 4
Usher syndrome type 2C
Usher syndrome type 2C
Febrile seizures, familial, 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA138212

rs_143632883

7 SubmittersRCV000039629 RCV001057194 RCV001330110 RCV001155420 RCV002483008 RCV002513553

NM_032119.4(ADGRV1):c.7582C>T (p.Pro2528Ser)

SNV
Germline

Chr5:90694338

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 2C
Condition: not provided
Meniere disease

Criteria Provided
Conflicting Classifications

CA138220

rs_201733037

12 SubmittersRCV000039633 RCV001155423 RCV000710461 RCV001797051

NM_032119.4(ADGRV1):c.7874G>A (p.Arg2625His)

SNV
Germline

Chr5:90694630

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2C

Criteria Provided
Conflicting Classifications

CA138228

rs_201214794

11 SubmittersRCV000039637 RCV000434012 RCV001157106

NM_032119.4(ADGRV1):c.8110A>T (p.Ile2704Phe)

SNV
Germline

Chr5:90697101

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2C
Hearing impairment
Usher syndrome type 2C
Febrile seizures, familial, 4

Criteria Provided
Conflicting Classifications

CA138231

rs_376318779

8 SubmittersRCV000039639 RCV000727071 RCV001151659 RCV001375445 RCV000765845

NM_032119.4(ADGRV1):c.8161A>G (p.Ile2721Val)

SNV
Germline

Chr5:90703670

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2C
Usher syndrome type 2C
Febrile seizures, familial, 4

Criteria Provided
Conflicting Classifications

CA138236

rs_201963060

7 SubmittersRCV000039642 RCV000724489 RCV001151661 RCV005031478

NM_032119.4(ADGRV1):c.8572A>G (p.Ile2858Val)

SNV
Germline

Chr5:90706236

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2C
Craniosynostosis syndrome
ADGRV1-related disorder

Criteria Provided
Conflicting Classifications

CA138249

rs_41308297

12 SubmittersRCV000039649 RCV000514669 RCV001154703 RCV005621858 RCV004549471

NM_032119.4(ADGRV1):c.8651T>C (p.Val2884Ala)

SNV
Germline

Chr5:90706315

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2C
ADGRV1-related disorder

Criteria Provided
Conflicting Classifications

CA138253

rs_111033517

7 SubmittersRCV000039651 RCV001852827 RCV001154704 RCV004737182

NM_032119.4(ADGRV1):c.9213C>T (p.Asp3071=)

SNV
Germline

Chr5:90716495

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA138263

rs_56329646

12 SubmittersRCV000039658 RCV001157216 RCV000725015

NM_032119.4(ADGRV1):c.9440G>A (p.Arg3147Gln)

SNV
Germline

Chr5:90716722

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2C
Idiopathic generalized epilepsy
Febrile seizures, familial, 4
Usher syndrome type 2
ADGRV1-related disorder

Criteria Provided
Conflicting Classifications

CA138267

rs_200792658

10 SubmittersRCV000039660 RCV000512737 RCV001157220 RCV001839410 RCV004527309 RCV001002856 RCV004724765

NM_032119.4(ADGRV1):c.9643G>A (p.Glu3215Lys)

SNV
Germline

Chr5:90720954

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2C
Febrile seizures, familial, 4
Usher syndrome type 2C

Criteria Provided
Conflicting Classifications

CA138271

rs_199499672

6 SubmittersRCV000039662 RCV000725378 RCV000765848 RCV004821263

NM_001384140.1(PCDH15):c.1039C>T (p.Leu347Phe)

SNV
Germline

Chr10:54213995

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1
Usher syndrome type 1F

Criteria Provided
Conflicting Classifications

CA138356

rs_111033436

11 SubmittersRCV000039693 RCV000969899 RCV001105070 RCV001449930

NM_001384140.1(PCDH15):c.1362C>T (p.Val454=)

SNV
Germline

Chr10:54185212

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1
Condition: not provided
Usher syndrome type 1F

Criteria Provided
Conflicting Classifications

CA138376

rs_61735479

8 SubmittersRCV000039702 RCV000272282 RCV000963503 RCV001831683

NM_001384140.1(PCDH15):c.1998-2A>G

SNV
Germline

Chr10:54079426

Pathogenic/Likely pathogenic

Usher syndrome type 1F
Rare genetic deafness
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 23

Criteria Provided
Multiple Submitters
No Conflicts

CA261843

rs_397517452

4 SubmittersRCV000039708 RCV000824733 RCV001379283 RCV003473288

NM_001384140.1(PCDH15):c.2424G>C (p.Lys808Asn)

SNV
Germline

Chr10:54022994

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1F

Criteria Provided
Conflicting Classifications

CA138384

rs_375855445

6 SubmittersRCV000039709 RCV000734148 RCV001273395

NM_001384140.1(PCDH15):c.243G>A (p.Val81=)

SNV
Germline

Chr10:54378857

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1
Condition: not provided
Usher syndrome type 1F

Criteria Provided
Conflicting Classifications

CA138388

rs_151119732

7 SubmittersRCV000039711 RCV000261127 RCV000587293 RCV001275407

NM_001384140.1(PCDH15):c.2563C>T (p.Arg855Trp)

SNV
Germline

Chr10:54020380

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1
Condition: not provided
PCDH15-related disorder
Usher syndrome type 1F

Criteria Provided
Conflicting Classifications

CA138390

rs_138010738

9 SubmittersRCV000039712 RCV000259703 RCV000658086 RCV004541127 RCV001273393

NM_001384140.1(PCDH15):c.2625G>A (p.Ser875=)

SNV
Germline

Chr10:54020318

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1
Condition: not provided
Usher syndrome type 1F

Criteria Provided
Conflicting Classifications

CA138392

rs_111033516

11 SubmittersRCV000039713 RCV000309900 RCV000950187 RCV001274795

NM_001384140.1(PCDH15):c.2885G>A (p.Arg962His)

SNV
Germline

Chr10:53961876

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1
Usher syndrome type 1F
Condition: not provided
PCDH15-related disorder

Criteria Provided
Conflicting Classifications

CA138398

rs_45483395

12 SubmittersRCV000039716 RCV000378203 RCV000664561 RCV000973447 RCV004534840

NM_001384140.1(PCDH15):c.2885G>T (p.Arg962Leu)

SNV
Germline

Chr10:53961876

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1
Condition: not provided
Usher syndrome type 1F
PCDH15-related disorder

Criteria Provided
Conflicting Classifications

CA138400

rs_45483395

12 SubmittersRCV000039717 RCV000273097 RCV000723804 RCV001273392 RCV004534841

NM_001384140.1(PCDH15):c.3316C>T (p.Arg1106Ter)

SNV
Germline

Chr10:53938872

Pathogenic/Likely pathogenic

Usher syndrome type 1F
Autosomal recessive nonsyndromic hearing loss 23
Usher syndrome type 1D
Usher syndrome type 1F
Condition: not provided
Rare genetic deafness
Usher syndrome
Autosomal recessive nonsyndromic hearing loss 23

Criteria Provided
Multiple Submitters
No Conflicts

CA261844

rs_202033121

11 SubmittersRCV000039723 RCV000515240 RCV001386496 RCV000824731 RCV003389450 RCV003473289

NM_001384140.1(PCDH15):c.3502-8C>T

SNV
Germline

Chr10:53866865

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1
Usher syndrome type 1F
PCDH15-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA138416

rs_184144118

12 SubmittersRCV000039728 RCV000407955 RCV001826581 RCV004534843 RCV000761719

NM_001384140.1(PCDH15):c.3817C>A (p.Arg1273Ser)

SNV
Germline

Chr10:53840486

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1F
Usher syndrome type 1
Usher syndrome type 1D
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 23
Usher syndrome type 1F
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA138426

rs_111033363

12 SubmittersRCV000039734 RCV000727028 RCV001449585 RCV001104870 RCV001810408 RCV000763655 RCV004814969

NM_001384140.1(PCDH15):c.4080G>A (p.Val1360=)

SNV
Germline

Chr10:53831437

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1
Condition: not provided
Usher syndrome type 1F
PCDH15-related disorder

Criteria Provided
Conflicting Classifications

CA138430

rs_111033499

6 SubmittersRCV000039737 RCV000296351 RCV000912149 RCV001272409 RCV004541128

NM_001384140.1(PCDH15):c.4103A>G (p.Glu1368Gly)

SNV
Germline

Chr10:53831414

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA138432

rs_111033449

5 SubmittersRCV000039738 RCV001104868 RCV000963253 RCV002513556

NM_033056.4(PCDH15):c.4783A>C (p.Ile1595Leu)

SNV
Germline

Chr10:53822943

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1
Condition: not provided
Usher syndrome type 1F
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA138445

rs_397517461

5 SubmittersRCV000039745 RCV000345143 RCV000928675 RCV001831686 RCV005462895

NM_033056.4(PCDH15):c.5283T>A (p.Ala1761=)

SNV
Germline

Chr10:53822443

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1
Condition: not provided
Usher syndrome type 1F

Criteria Provided
Conflicting Classifications

CA138455

rs_375134176

4 SubmittersRCV000039750 RCV000264922 RCV001497321 RCV001826583

NM_033056.4(PCDH15):c.5353T>C (p.Ser1785Pro)

SNV
Germline

Chr10:53822373

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1
Condition: not provided
Usher syndrome type 1F
Inborn genetic diseases
PCDH15-related disorder

Criteria Provided
Conflicting Classifications

CA138467

rs_144261647

6 SubmittersRCV000039756 RCV000280214 RCV000901705 RCV001274780 RCV004018894 RCV004541131

NM_033056.4(PCDH15):c.5414C>T (p.Pro1805Leu)

SNV
Germline

Chr10:53822312

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1
Usher syndrome type 1F
PCDH15-related disorder

Criteria Provided
Conflicting Classifications

CA138473

rs_114137983

9 SubmittersRCV000039759 RCV000971054 RCV001105923 RCV001831689 RCV004534846

NM_033056.4(PCDH15):c.5565C>T (p.Ala1855=)

SNV
Germline

Chr10:53822161

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1
Condition: not provided
Usher syndrome type 1F

Criteria Provided
Conflicting Classifications

CA138479

rs_111033445

11 SubmittersRCV000039762 RCV000381540 RCV000727222 RCV001831690

NM_033056.4(PCDH15):c.5603C>T (p.Thr1868Met)

SNV
Germline

Chr10:53822123

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA138485

rs_191736346

8 SubmittersRCV000039765 RCV000909077 RCV001104784

NM_033056.4(PCDH15):c.5726G>A (p.Arg1909His)

SNV
Germline

Chr10:53822000

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1F
Condition: not provided

Criteria Provided
Conflicting Classifications

CA138489

rs_145851144

5 SubmittersRCV000039767 RCV000671807 RCV001548684

NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter)

SNV
Germline

Chr11:17504664

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 18A
not specified
Usher syndrome type 1
Usher syndrome type 1C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA261936

rs_146451547

9 SubmittersRCV000041266 RCV000211746 RCV001004552 RCV000984230 RCV000725879

NM_153676.4(USH1C):c.2611G>A (p.Ala871Thr)

SNV
Germline

Chr11:17495613

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1C
USH1C-related disorder
Autosomal recessive nonsyndromic hearing loss 18A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA142361

rs_56165709

8 SubmittersRCV000041285 RCV001810410 RCV003914998 RCV001331815 RCV001471034

NM_153676.4(USH1C):c.381G>T (p.Gly127=)

SNV
Germline

Chr11:17531160

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1C

Criteria Provided
Conflicting Classifications

CA142374

rs_41282942

10 SubmittersRCV000041290 RCV000958386 RCV001106427

NM_153676.4(USH1C):c.403G>A (p.Val135Ile)

SNV
Germline

Chr11:17527316

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1C
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 18A

Criteria Provided
Conflicting Classifications

CA142380

rs_145013633

10 SubmittersRCV000041292 RCV000343731 RCV000963575 RCV001578830

NM_173477.5(USH1G):c.1258C>G (p.Leu420Val)

SNV
Germline

Chr17:74919578

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1G
USH1G-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA142646

rs_139897506

11 SubmittersRCV000041414 RCV000724716 RCV001123313 RCV004541211 RCV004814970

NM_173477.5(USH1G):c.1373A>T (p.Asp458Val)

SNV
Germline

Chr17:74919463

Pathogenic/Likely pathogenic

Rare genetic deafness
Condition: not provided
Usher syndrome type 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA262040

rs_397517925

4 SubmittersRCV000041415 RCV001382883 RCV001799509

NM_173477.5(USH1G):c.501C>G (p.Arg167=)

SNV
Germline

Chr17:74920335

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1G

Criteria Provided
Conflicting Classifications

CA142656

rs_141688757

7 SubmittersRCV000041420 RCV000886372 RCV001125411

NM_173477.5(USH1G):c.566G>A (p.Arg189Gln)

SNV
Germline

Chr17:74920270

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1G
USH1G-related disorder

Criteria Provided
Conflicting Classifications

CA142660

rs_201644674

7 SubmittersRCV000041422 RCV000958231 RCV001124409 RCV004537146

NM_173477.5(USH1G):c.83C>T (p.Pro28Leu)

SNV
Germline

Chr17:74922991

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1G
Optic atrophy

Criteria Provided
Conflicting Classifications

CA142670

rs_145448362

10 SubmittersRCV000041427 RCV000432648 RCV001127509 RCV004814971

NM_174878.3(CLRN1):c.127G>A (p.Gly43Arg)

SNV
Germline

Chr3:150972582

Pathogenic/Likely pathogenic

Rare genetic deafness
Condition: not provided
Usher syndrome type 3A
Retinitis pigmentosa 61

Criteria Provided
Multiple Submitters
No Conflicts

CA142675

rs_111033434

4 SubmittersRCV000041430 RCV001058723 RCV005031479

NM_174878.3(CLRN1):c.142A>G (p.Asn48Asp)

SNV
Germline

Chr3:150972567

Conflicting classifications of pathogenicity

not specified
Retinal dystrophy
Usher syndrome type 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA142679

rs_397517930

4 SubmittersRCV000041431 RCV001074854 RCV001831698 RCV001852844

NM_174878.3(CLRN1):c.368C>A (p.Ala123Asp)

SNV
Germline

Chr3:150941647

Pathogenic/Likely pathogenic

Usher syndrome type 3
Condition: not provided
Usher syndrome type 3A
Usher syndrome
Rare genetic deafness
Retinitis pigmentosa 61
Usher syndrome type 3A
Retinitis pigmentosa 61

Criteria Provided
Multiple Submitters
No Conflicts

CA142688

rs_374963432

8 SubmittersRCV000041436 RCV001071445 RCV002243688 RCV001582535 RCV000844624 RCV003466890 RCV005031481

NM_174878.3(CLRN1):c.9C>A (p.Ser3Arg)

SNV
Germline

Chr3:150972700

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 3A
Retinal dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA142703

rs_187218889

6 SubmittersRCV000041439 RCV001272456 RCV003887880 RCV000726773

NM_206933.4(USH2A):c.1000C>G (p.Arg334Gly)

SNV
Germline

Chr1:216325448

Conflicting classifications of pathogenicity

not specified
Retinal dystrophy
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA143213

rs_397517963

7 SubmittersRCV000041663 RCV001074760 RCV000670778 RCV001362594 RCV003466891

NM_206933.4(USH2A):c.1036A>C (p.Asn346His)

SNV
Germline

Chr1:216325412

Pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Rare genetic deafness
Usher syndrome
Retinal dystrophy
Retinitis pigmentosa

Reviewed By Expert Panel

CA262054

rs_369522997

13 SubmittersRCV000041668 RCV000411779 RCV000727128 RCV000824797 RCV000710349 RCV001074772 RCV001723627

NM_206933.4(USH2A):c.10450C>T (p.Arg3484Ter)

SNV
Germline

Chr1:215782873

Pathogenic/Likely pathogenic

Rare genetic deafness
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA262056

rs_111033379

8 SubmittersRCV000041669 RCV000670189 RCV000802347 RCV001353056 RCV003450731 RCV004814973

NM_206933.4(USH2A):c.10517C>T (p.Thr3506Met)

SNV
Germline

Chr1:215782806

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA143221

rs_397517966

4 SubmittersRCV000041670 RCV001350663 RCV000669162 RCV004686573

NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg)

SNV
Germline

Chr1:215782762

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Rare genetic deafness
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy
See cases
USH2A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA262058

rs_111033264

19 SubmittersRCV000041673 RCV000824783 RCV001056065 RCV001376413 RCV000504880 RCV000665210 RCV001074824 RCV002287354 RCV004732588

NM_206933.4(USH2A):c.10585G>A (p.Gly3529Ser)

SNV
Germline

Chr1:215782738

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Usher syndrome
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA143227

rs_111033439

5 SubmittersRCV000041674 RCV000667791 RCV001852852 RCV005430950 RCV003466892

NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met)

SNV
Germline

Chr1:215782070

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Usher syndrome type 2A
Retinitis pigmentosa 39
Rare genetic deafness
Nonsyndromic genetic hearing loss
Condition: not provided
Retinal dystrophy
Usher syndrome
Retinitis pigmentosa 39
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA262060

rs_202175091

15 SubmittersRCV000041676 RCV000666226 RCV000824782 RCV001544538 RCV000804464 RCV001073629 RCV003323372 RCV001293034 RCV003324502

NM_206933.4(USH2A):c.10724G>A (p.Cys3575Tyr)

SNV
Germline

Chr1:215782058

Pathogenic/Likely pathogenic

Rare genetic deafness
Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA262062

rs_111033265

5 SubmittersRCV000041677 RCV001073926 RCV001852854 RCV003450737 RCV002496659 RCV003450738

NM_206933.4(USH2A):c.10759C>T (p.Gln3587Ter)

SNV
Germline

Chr1:215780023

Pathogenic/Likely pathogenic

Rare genetic deafness
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA262064

rs_111033418

8 SubmittersRCV000041678 RCV000522247 RCV000664676 RCV003450739 RCV003450740

NM_206933.4(USH2A):c.10769C>T (p.Pro3590Leu)

SNV
Germline

Chr1:215780013

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA143231

rs_115403785

10 SubmittersRCV000041679 RCV000513386 RCV001197373

NM_206933.4(USH2A):c.10922G>A (p.Arg3641Lys)

SNV
Germline

Chr1:215779860

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA143239

rs_397517969

3 SubmittersRCV000041683 RCV000666661 RCV002514158

NM_206933.4(USH2A):c.11231+1G>T

SNV
Germline

Chr1:215759659

Likely pathogenic

Rare genetic deafness
Condition: not provided
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA262067

rs_111033382

3 SubmittersRCV000041690 RCV002513592 RCV003445114

NM_206933.4(USH2A):c.1139A>G (p.Tyr380Cys)

SNV
Germline

Chr1:216325309

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA143255

rs_111033395

4 SubmittersRCV000041694 RCV001852855 RCV002307376 RCV005252713

NM_206933.4(USH2A):c.1143+1G>A

SNV
Germline

Chr1:216325304

Pathogenic

Rare genetic deafness
Cone-rod dystrophy
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA262069

rs_397517974

4 SubmittersRCV000041697 RCV001199582 RCV003445115 RCV003445116

NM_206933.4(USH2A):c.1179A>G (p.Gln393=)

SNV
Germline

Chr1:216324317

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa
Condition: not provided
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA143271

rs_148447919

10 SubmittersRCV000041704 RCV000360778 RCV000890954 RCV000308355

NM_206933.4(USH2A):c.11927C>T (p.Thr3976Met)

SNV
Germline

Chr1:215728169

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA143275

rs_142381713

12 SubmittersRCV000041707 RCV000725418 RCV000986519 RCV001579153 RCV004814974

NM_206933.4(USH2A):c.11928G>A (p.Thr3976=)

SNV
Germline

Chr1:215728168

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 2A
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA143277

rs_55961436

11 SubmittersRCV000041708 RCV000119822 RCV000955280 RCV003887885

NM_206933.4(USH2A):c.11954G>A (p.Trp3985Ter)

SNV
Germline

Chr1:215728142

Pathogenic/Likely pathogenic

Rare genetic deafness
Retinal dystrophy
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Usher syndrome
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA262070

rs_397517976

8 SubmittersRCV000041710 RCV001075329 RCV000669396 RCV001852856 RCV003226175 RCV003450756 RCV003450757

NM_206933.4(USH2A):c.12067-1G>C

SNV
Germline

Chr1:215680377

Pathogenic/Likely pathogenic

Rare genetic deafness
Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA262072

rs_397517977

5 SubmittersRCV000041711 RCV000670110 RCV003445117 RCV001852857 RCV003445118

NM_206933.4(USH2A):c.12067-2A>G

SNV
Germline

Chr1:215680378

Pathogenic

Rare genetic deafness
Usher syndrome type 2
Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Usher syndrome type 2A
USH2A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA262073

rs_397517978

18 SubmittersRCV000390593 RCV001003259 RCV001073917 RCV000412841 RCV000666727 RCV000983997 RCV001271128 RCV004732590

NM_206933.4(USH2A):c.12295-2A>G

SNV
Germline

Chr1:215675618

Pathogenic/Likely pathogenic

Rare genetic deafness
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA262074

rs_151148854

9 SubmittersRCV000041714 RCV000670554 RCV001074339 RCV001057968 RCV001826587 RCV003445119

NM_206933.4(USH2A):c.12294+1G>C

SNV
Germline

Chr1:215680148

Pathogenic/Likely pathogenic

Rare genetic deafness
Condition: not provided
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA262077

rs_111033526

3 SubmittersRCV000041716 RCV001386543 RCV003445120

NM_206933.4(USH2A):c.12295-3T>A

SNV
Germline

Chr1:215675619

Pathogenic

not specified
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome
Retinal dystrophy
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa

Reviewed By Expert Panel

CA143283

rs_111033518

11 SubmittersRCV000041717 RCV000414389 RCV000675157 RCV001004773 RCV001074786 RCV005007961 RCV001723628

NM_206933.4(USH2A):c.12332C>T (p.Ser4111Phe)

SNV
Germline

Chr1:215675579

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Retinitis pigmentosa
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy
USH2A-related disorder

Criteria Provided
Conflicting Classifications

CA143284

rs_142095945

10 SubmittersRCV000041718 RCV001241616 RCV001270357 RCV001274935 RCV001376289 RCV002496660 RCV004814975 RCV004732591

NM_206933.4(USH2A):c.12343C>T (p.Arg4115Cys)

SNV
Germline

Chr1:215675568

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Retinal dystrophy
Usher syndrome type 2A
USH2A-related disorder

Criteria Provided
Conflicting Classifications

CA143286

rs_111033275

9 SubmittersRCV000041719 RCV000727295 RCV001074716 RCV000986518 RCV004732592

NM_206933.4(USH2A):c.12557T>C (p.Ile4186Thr)

SNV
Germline

Chr1:215675354

Conflicting classifications of pathogenicity

not specified
Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
USH2A-related disorder

Criteria Provided
Conflicting Classifications

CA143292

rs_112120466

7 SubmittersRCV000041722 RCV001075259 RCV000767175 RCV001274932 RCV004537148

NM_206933.4(USH2A):c.12714T>G (p.Tyr4238Ter)

SNV
Germline

Chr1:215675197

Pathogenic

Rare genetic deafness
Usher syndrome type 2A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA262078

rs_397517981

3 SubmittersRCV000041728 RCV003450767 RCV001852858

NM_206933.4(USH2A):c.12739G>A (p.Gly4247Arg)

SNV
Germline

Chr1:215675172

Conflicting classifications of pathogenicity

Rare genetic deafness
Condition: not provided
Usher syndrome
Usher syndrome type 2A
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA262080

rs_397517982

6 SubmittersRCV000041729 RCV005089379 RCV003389451 RCV003450768 RCV003887890

NM_206933.4(USH2A):c.12868C>T (p.Gln4290Ter)

SNV
Germline

Chr1:215675043

Pathogenic

Rare genetic deafness
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA262082

rs_397517983

5 SubmittersRCV000041731 RCV000819445 RCV000670430 RCV001074436 RCV003450770 RCV003450771

NM_206933.4(USH2A):c.12874A>G (p.Asn4292Asp)

SNV
Germline

Chr1:215675037

Likely pathogenic

not specified
Retinitis pigmentosa
Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39

Reviewed By Expert Panel

CA143304

rs_397517984

9 SubmittersRCV000041732 RCV000504620 RCV001075301 RCV001231366 RCV001810411 RCV003460549 RCV005016325

NM_206933.4(USH2A):c.12883A>G (p.Ile4295Val)

SNV
Germline

Chr1:215675028

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA143306

rs_137868043

3 SubmittersRCV000041733 RCV001246661 RCV001272947

NM_206933.4(USH2A):c.13130C>A (p.Ser4377Ter)

SNV
Germline

Chr1:215674781

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Rare genetic deafness

Criteria Provided
Multiple Submitters
No Conflicts

CA262084

rs_111033385

6 SubmittersRCV000041735 RCV000410671 RCV000725789 RCV000824778

NM_206933.4(USH2A):c.13709G>A (p.Arg4570His)

SNV
Germline

Chr1:215674202

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Retinal dystrophy
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA143326

rs_730254

12 SubmittersRCV000041745 RCV000585560 RCV003887893 RCV001272941 RCV001376370

NM_206933.4(USH2A):c.14074G>A (p.Gly4692Arg)

SNV
Germline

Chr1:215671031

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA143334

rs_45549044

14 SubmittersRCV000041750 RCV000756882 RCV000669410 RCV001532872 RCV005417445

NM_206933.4(USH2A):c.14101G>A (p.Glu4701Lys)

SNV
Germline

Chr1:215671004

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa 39
Condition: not provided
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA143336

rs_372966682

5 SubmittersRCV000041751 RCV001376435 RCV001245454 RCV001272937

NM_206933.4(USH2A):c.14180G>A (p.Trp4727Ter)

SNV
Germline

Chr1:215650755

Pathogenic/Likely pathogenic

Rare genetic deafness
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA262089

rs_397517989

5 SubmittersRCV000041752 RCV000674521 RCV001380766 RCV003450782 RCV003450783

NM_206933.4(USH2A):c.14287G>A (p.Gly4763Arg)

SNV
Germline

Chr1:215650648

Pathogenic/Likely pathogenic

Rare genetic deafness
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome type 2A
Retinal dystrophy
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA262091

rs_397517990

8 SubmittersRCV000041756 RCV001057445 RCV000665736 RCV001198544 RCV003887895 RCV003450788

NM_206933.4(USH2A):c.1434G>C (p.Glu478Asp)

SNV
Germline

Chr1:216323590

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA143350

rs_35730265

14 SubmittersRCV000041760 RCV001099108 RCV000828962 RCV001099109 RCV003887896

NM_206933.4(USH2A):c.14516C>T (p.Thr4839Met)

SNV
Germline

Chr1:215648594

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome type 2A
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA143356

rs_139065588

7 SubmittersRCV000041763 RCV000665634 RCV001272933 RCV001034422 RCV003887899 RCV001579147

NM_206933.4(USH2A):c.14664G>A (p.Thr4888=)

SNV
Germline

Chr1:215647649

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA143366

rs_111033525

10 SubmittersRCV000041768 RCV000725431 RCV001272930 RCV004965269

NM_206933.4(USH2A):c.14911C>T (p.Arg4971Ter)

SNV
Germline

Chr1:215640615

Pathogenic/Likely pathogenic

Rare genetic deafness
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Cone-rod dystrophy
Usher syndrome
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA262093

rs_397517994

8 SubmittersRCV000041772 RCV000671978 RCV001852859 RCV000787726 RCV003114221 RCV003450801 RCV003450802 RCV004814977

NM_206933.4(USH2A):c.15364T>C (p.Cys5122Arg)

SNV
Germline

Chr1:215628969

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA143395

rs_111033402

7 SubmittersRCV001247642 RCV001810412 RCV002483032 RCV004814978

NM_206933.4(USH2A):c.15496A>G (p.Ile5166Val)

SNV
Germline

Chr1:215628837

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA143403

rs_111033419

8 SubmittersRCV000041788 RCV001276136 RCV002504925 RCV002513599 RCV003460550

NM_206933.4(USH2A):c.1590A>T (p.Thr530=)

SNV
Germline

Chr1:216321937

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA143413

rs_144343161

5 SubmittersRCV000041793 RCV000726814 RCV001826593

NM_206933.4(USH2A):c.1606T>C (p.Cys536Arg)

SNV
Germline

Chr1:216321921

Pathogenic

Rare genetic deafness
Retinitis pigmentosa
Usher syndrome type 2A
Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA262095

rs_111033273

16 SubmittersRCV000041794 RCV000787727 RCV000984314 RCV001074602 RCV000413438 RCV000678646 RCV002483034 RCV004799759

NM_206933.4(USH2A):c.1663C>G (p.Leu555Val)

SNV
Germline

Chr1:216292352

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Retinitis pigmentosa
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA143415

rs_35818432

16 SubmittersRCV000041795 RCV000415970 RCV001003284 RCV001101110 RCV001376290

NM_206933.4(USH2A):c.1841-2A>G

SNV
Germline

Chr1:216289412

Pathogenic

Rare genetic deafness
USH2A-related disorder
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Nonsyndromic genetic hearing loss

Criteria Provided
Multiple Submitters
No Conflicts

CA262097

rs_397518003

13 SubmittersRCV000041799 RCV000270130 RCV000665036 RCV000984014 RCV001271238 RCV001069761 RCV001544537

NM_206933.4(USH2A):c.2052A>G (p.Gln684=)

SNV
Germline

Chr1:216251018

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa
Retinal dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA143433

rs_111033248

13 SubmittersRCV000041805 RCV000888471 RCV000986546 RCV001097279 RCV004814979 RCV004018917

NM_206933.4(USH2A):c.2546G>A (p.Cys849Tyr)

SNV
Germline

Chr1:216246848

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA143442

rs_111033481

11 SubmittersRCV000041814 RCV000946559 RCV000986544 RCV001098935 RCV004814980

NM_206933.4(USH2A):c.264C>G (p.Cys88Trp)

SNV
Germline

Chr1:216422073

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
Retinitis pigmentosa 39
Condition: not provided

Criteria Provided
Conflicting Classifications

CA143444

rs_368798834

7 SubmittersRCV000041815 RCV000666896 RCV001075031 RCV001376238 RCV001560407

NM_206933.4(USH2A):c.3123C>A (p.His1041Gln)

SNV
Germline

Chr1:216217421

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa
Condition: not provided
Usher syndrome type 2A
Retinal dystrophy
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA143454

rs_149304901

13 SubmittersRCV000041821 RCV001097184 RCV000487811 RCV001097185 RCV004814981 RCV001578841

NM_206933.4(USH2A):c.3158-6A>G

SNV
Germline

Chr1:216207437

Likely pathogenic

Rare genetic deafness
Retinitis pigmentosa 39
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA143458

rs_397518010

4 SubmittersRCV000041823 RCV003460551 RCV000505082

NM_206933.4(USH2A):c.3309C>A (p.Tyr1103Ter)

SNV
Germline

Chr1:216207280

Pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A
Rare genetic deafness
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA262098

rs_397518011

9 SubmittersRCV000041825 RCV000669871 RCV000824791 RCV001386859 RCV001074200 RCV003450838

NM_206933.4(USH2A):c.3621C>T (p.Ile1207=)

SNV
Germline

Chr1:216199817

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa
Condition: not provided
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA143465

rs_146462407

7 SubmittersRCV000041831 RCV000341412 RCV000974887 RCV000394479

NM_206933.4(USH2A):c.3700A>G (p.Ile1234Val)

SNV
Germline

Chr1:216199738

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 2A
Retinitis pigmentosa
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA143467

rs_200276882

5 SubmittersRCV000041832 RCV000346771 RCV000291877 RCV000669144 RCV002513602 RCV003162354

NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu)

SNV
Germline

Chr1:216196698

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa 39
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome
Retinal dystrophy
USH2A-related disorder
Retinitis pigmentosa
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA143476

rs_201709513

16 SubmittersRCV000041837 RCV001376516 RCV000726718 RCV000665274 RCV002307377 RCV001074345 RCV004732594 RCV001723629 RCV003326116

NM_206933.4(USH2A):c.4532C>T (p.Ala1511Val)

SNV
Germline

Chr1:216175347

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA143485

rs_201710470

5 SubmittersRCV000041843 RCV001033957 RCV003450845 RCV003450846 RCV004965271

NM_206933.4(USH2A):c.4560C>T (p.Ile1520=)

SNV
Germline

Chr1:216175319

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA143488

rs_148000219

13 SubmittersRCV000041844 RCV000724966 RCV001102385 RCV001102384

NM_206933.4(USH2A):c.4578G>T (p.Gly1526=)

SNV
Germline

Chr1:216175301

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA143491

rs_147560504

5 SubmittersRCV000041845 RCV000725828 RCV001273055

NM_206933.4(USH2A):c.4586A>T (p.Lys1529Ile)

SNV
Germline

Chr1:216175293

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA143494

rs_41303255

13 SubmittersRCV000041846 RCV000324312 RCV000513149 RCV000270447 RCV001073300

NM_206933.4(USH2A):c.478G>A (p.Gly160Ser)

SNV
Germline

Chr1:216421859

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa
USH2A-related disorder

Criteria Provided
Conflicting Classifications

CA143499

rs_111033479

6 SubmittersRCV000041848 RCV000881175 RCV001099314 RCV001099313 RCV004537152

NM_206933.4(USH2A):c.4837A>G (p.Ile1613Val)

SNV
Germline

Chr1:216089061

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA143501

rs_397518017

3 SubmittersRCV000041849 RCV000673507 RCV002514162

NM_206933.4(USH2A):c.5581G>A (p.Gly1861Ser)

SNV
Germline

Chr1:216073292

Pathogenic

Rare genetic deafness
Usher syndrome
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 39
USH2A-related disorder

Reviewed By Expert Panel

CA262105

rs_375668376

11 SubmittersRCV000041861 RCV000710326 RCV000667951 RCV001074044 RCV001214945 RCV003460552 RCV004537153

NM_206933.4(USH2A):c.5612G>A (p.Gly1871Asp)

SNV
Germline

Chr1:216073261

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Childhood onset hearing loss

Criteria Provided
Conflicting Classifications

CA143523

rs_140895792

9 SubmittersRCV000041863 RCV001276245 RCV001588861 RCV000585075 RCV001543605

NM_206933.4(USH2A):c.5698T>G (p.Cys1900Gly)

SNV
Germline

Chr1:216073175

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA143525

rs_201026468

6 SubmittersRCV000041864 RCV000903235 RCV001810413

NM_206933.4(USH2A):c.5788C>T (p.Arg1930Ter)

SNV
Germline

Chr1:216072958

Pathogenic/Likely pathogenic

Rare genetic deafness
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA262107

rs_397518021

10 SubmittersRCV000041869 RCV000668739 RCV001289411 RCV003450858 RCV003450859 RCV004794353

NM_206933.4(USH2A):c.5857+2T>C

SNV
Germline

Chr1:216072887

Likely pathogenic

Rare genetic deafness
USH2A-related disorder
Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome
Usher syndrome type 2A

Reviewed By Expert Panel

CA262109

rs_397518022

9 SubmittersRCV000041870 RCV000295857 RCV001074605 RCV001036145 RCV000675153 RCV001004785 RCV002291270

NM_206933.4(USH2A):c.5858-1G>A

SNV
Germline

Chr1:216070293

Pathogenic/Likely pathogenic

Rare genetic deafness
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA262110

rs_397518023

8 SubmittersRCV000041871 RCV000665613 RCV000821430 RCV001826596 RCV003445127

NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly)

SNV
Germline

Chr1:216070292

Conflicting classifications of pathogenicity

not specified
Retinal dystrophy
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
USH2A-related disorder
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA143534

rs_41302239

20 SubmittersRCV000041872 RCV000504937 RCV000765069 RCV001196428 RCV000726918 RCV004724770 RCV001579152

NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys)

SNV
Germline

Chr1:216070175

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Progressive cone dystrophy (without rod involvement)
USH2A-related disorder
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA248657

rs_41303287

16 SubmittersRCV000041873 RCV000585540 RCV000669397 RCV000787924 RCV004537154 RCV001273044

NM_206933.4(USH2A):c.6043C>T (p.Leu2015Phe)

SNV
Germline

Chr1:216070107

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA143540

rs_370597096

4 SubmittersRCV000041876 RCV000665501 RCV001509571 RCV002513603

NM_206933.4(USH2A):c.6134A>G (p.His2045Arg)

SNV
Germline

Chr1:216048563

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA143546

rs_111033514

8 SubmittersRCV000041879 RCV000726921 RCV000664994 RCV001273040

NM_206933.4(USH2A):c.6224G>A (p.Trp2075Ter)

SNV
Germline

Chr1:216046532

Pathogenic

Rare genetic deafness
Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA262111

rs_111033386

6 SubmittersRCV000041880 RCV001073793 RCV001042426 RCV001826597 RCV003450867

NM_206933.4(USH2A):c.6486G>A (p.Gln2162=)

SNV
Germline

Chr1:215999058

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA143558

rs_397518025

3 SubmittersRCV000041887 RCV000664951 RCV002513604

NM_206933.4(USH2A):c.653T>A (p.Val218Glu)

SNV
Germline

Chr1:216365084

Conflicting classifications of pathogenicity

Rare genetic deafness
Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome
USH2A-related disorder

Criteria Provided
Conflicting Classifications

CA262114

rs_397518026

18 SubmittersRCV000041890 RCV000408647 RCV000504825 RCV001075204 RCV001826599 RCV000675152 RCV005237463 RCV004537156

NM_206933.4(USH2A):c.6721C>T (p.Pro2241Ser)

SNV
Germline

Chr1:215993104

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA143572

rs_111033412

3 SubmittersRCV000041895 RCV001274250 RCV001210033

NM_206933.4(USH2A):c.688G>A (p.Val230Met)

SNV
Germline

Chr1:216365049

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Retinitis pigmentosa
Usher syndrome type 2A
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA143578

rs_45500891

12 SubmittersRCV000041898 RCV000126255 RCV001097446 RCV001273813 RCV003888405

NM_206933.4(USH2A):c.7060C>T (p.Arg2354Cys)

SNV
Germline

Chr1:215965377

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2A
USH2A-related disorder

Criteria Provided
Conflicting Classifications

CA143583

rs_111033508

5 SubmittersRCV000041901 RCV000893876 RCV001271990 RCV004732597

NM_206933.4(USH2A):c.7068T>G (p.Asn2356Lys)

SNV
Germline

Chr1:215965369

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2A
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA143585

rs_200038092

10 SubmittersRCV000041902 RCV000924303 RCV000490376 RCV000671627

NM_206933.4(USH2A):c.7244C>G (p.Ser2415Ter)

SNV
Germline

Chr1:215934672

Pathogenic

Rare genetic deafness
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA262116

rs_397518029

4 SubmittersRCV000041905 RCV001205092 RCV003450885 RCV003466893

NM_206933.4(USH2A):c.7301-6C>T

SNV
Germline

Chr1:215900911

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA143591

rs_375499259

9 SubmittersRCV000041906 RCV000724816 RCV001271985

NM_206933.4(USH2A):c.7451+3G>A

SNV
Germline

Chr1:215900752

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA143594

rs_397518030

4 SubmittersRCV000041908 RCV000667778 RCV000986529 RCV002513605

NM_206933.4(USH2A):c.7844A>G (p.Gln2615Arg)

SNV
Germline

Chr1:215888805

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA143603

rs_397518032

3 SubmittersRCV000041913 RCV000668816 RCV005089381

NM_206933.4(USH2A):c.78T>C (p.Ala26=)

SNV
Germline

Chr1:216422259

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA143611

rs_59139861

4 SubmittersRCV000041917 RCV001101303 RCV000888634 RCV001101304

NM_206933.4(USH2A):c.802G>A (p.Gly268Arg)

SNV
Germline

Chr1:216327637

Pathogenic/Likely pathogenic

Usher syndrome
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
Usher syndrome type 2
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA143613

rs_111033280

15 SubmittersRCV000041918 RCV000675158 RCV001074162 RCV001003288 RCV001060026 RCV003450896 RCV001826601

NM_206933.4(USH2A):c.820C>T (p.Arg274Ter)

SNV
Germline

Chr1:216327619

Pathogenic

Rare genetic deafness
Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome type 2A
Usher syndrome
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA262118

rs_397518036

8 SubmittersRCV000041921 RCV000669898 RCV001831706 RCV003389452 RCV001852861 RCV003888408 RCV003450899

NM_206933.4(USH2A):c.8342C>T (p.Thr2781Ile)

SNV
Germline

Chr1:215878980

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA143623

rs_143240767

10 SubmittersRCV000041924 RCV000490269 RCV000937215 RCV000665134 RCV003888409 RCV001579280

NM_206933.4(USH2A):c.8431C>A (p.Pro2811Thr)

SNV
Germline

Chr1:215878891

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA262120

rs_111033529

6 SubmittersRCV000041927 RCV000937132 RCV001074998 RCV000505137 RCV000664665

NM_206933.4(USH2A):c.8559-2A>G

SNV
Germline

Chr1:215877882

Pathogenic

Usher syndrome type 2A
Retinitis pigmentosa
Usher syndrome
Retinal dystrophy
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Usher syndrome type 2A
Rare genetic deafness
Condition: not provided

Reviewed By Expert Panel

CA262122

rs_397518039

20 SubmittersRCV000041930 RCV000132715 RCV000710341 RCV001075171 RCV003460553 RCV000665497 RCV000824785 RCV000592589

NM_206933.4(USH2A):c.879T>G (p.Leu293=)

SNV
Germline

Chr1:216325569

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Retinitis pigmentosa
Usher syndrome type 2A
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA143640

rs_3767698

6 SubmittersRCV000041935 RCV000879540 RCV001101203 RCV001101202 RCV003888412

NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter)

SNV
Germline

Chr1:215845898

Pathogenic/Likely pathogenic

Rare genetic deafness
Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA262123

rs_397518041

13 SubmittersRCV000041937 RCV000760327 RCV000504790 RCV001075814 RCV000666550 RCV001193386 RCV001273709 RCV001376393

NM_206933.4(USH2A):c.9071T>A (p.Leu3024His)

SNV
Germline

Chr1:215844481

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome type 2A
Usher syndrome

Criteria Provided
Conflicting Classifications

CA143644

rs_111033456

6 SubmittersRCV000041938 RCV001248550 RCV000669262 RCV001276962 RCV003389453

NM_206933.4(USH2A):c.9203T>C (p.Val3068Ala)

SNV
Germline

Chr1:215844349

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2A
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA143646

rs_146445078

6 SubmittersRCV000041940 RCV000416029 RCV001810414 RCV005394243

NM_206933.4(USH2A):c.9371+1G>C

SNV
Germline

Chr1:215837990

Pathogenic

Rare genetic deafness
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA262130

rs_41308425

12 SubmittersRCV000041950 RCV000726813 RCV001002711 RCV001376451 RCV004767034 RCV005016326

NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter)

SNV
Germline

Chr1:215817143

Pathogenic/Likely pathogenic

Usher syndrome
Rare genetic deafness
Inborn genetic diseases
Usher syndrome type 2
Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Retinal dystrophy
Usher syndrome type 2A
Retinitis pigmentosa
Retinitis pigmentosa 39
Usher syndrome
USH2A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA262131

rs_397518048

17 SubmittersRCV000041952 RCV000624783 RCV001003263 RCV002504928 RCV001055909 RCV001074810 RCV001831709 RCV001723630 RCV003387741 RCV003492342 RCV004732599

NM_206933.4(USH2A):c.9459C>A (p.Cys3153Ter)

SNV
Germline

Chr1:215817108

Pathogenic

Rare genetic deafness
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
Usher syndrome
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA262133

rs_73090721

10 SubmittersRCV000041954 RCV000674717 RCV001075710 RCV001388971 RCV001273702 RCV001778686 RCV003450911

NM_206933.4(USH2A):c.9799T>C (p.Cys3267Arg)

SNV
Germline

Chr1:215799066

Pathogenic/Likely pathogenic

Rare genetic deafness
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA262135

rs_111033263

10 SubmittersRCV000041960 RCV000668014 RCV001075163 RCV000787745 RCV001044836 RCV003450916 RCV003450915

NM_032119.4(ADGRV1):c.9679C>T (p.Arg3227Ter)

SNV
Germline

Chr5:90720990

Pathogenic

Condition: not provided
Usher syndrome type 2C
Usher syndrome type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA3340572

rs_267600727

3 SubmittersRCV001854261 RCV004584604 RCV001002857

NM_022124.6(CDH23):c.2394C>T (p.Thr798=)

SNV
Germline

Chr10:71695522

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA223628

rs_373269394

4 SubmittersRCV000082085 RCV001275941

NM_022124.6(CDH23):c.7049C>T (p.Ser2350Leu)

SNV
Germline

Chr10:71798573

Conflicting classifications of pathogenicity

Condition: not provided
Pituitary adenoma 5, multiple types
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA223630

rs_371522435

5 SubmittersRCV000082088 RCV000764922 RCV001831884

NM_032119.4(ADGRV1):c.4714A>G (p.Asn1572Asp)

SNV
Germline

Chr5:90658240

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2C
Febrile seizures, familial, 4

Criteria Provided
Conflicting Classifications

CA223821

rs_370432538

3 SubmittersRCV000082291 RCV002477242

NM_001384140.1(PCDH15):c.3936A>G (p.Ala1312=)

SNV
Germline

Chr10:53840367

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1F

Criteria Provided
Conflicting Classifications

CA223847

rs_398124433

4 SubmittersRCV000082314 RCV000723701 RCV001826770

NM_206933.4(USH2A):c.6862G>T (p.Glu2288Ter)

SNV
Germline

Chr1:215970720

Pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Usher syndrome type 2A
Retinal dystrophy
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA224398

rs_398124619

9 SubmittersRCV000675016 RCV000760348 RCV001002688 RCV001075205 RCV001376458

NM_206933.4(USH2A):c.7915T>C (p.Ser2639Pro)

SNV
Germline

Chr1:215888734

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa
Usher syndrome

Criteria Provided
Conflicting Classifications

CA224400

rs_398124620

5 SubmittersRCV000082831 RCV005007997 RCV001723661 RCV003230399

NM_206933.4(USH2A):c.14792-2A>G

SNV
Germline

Chr1:215640736

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39
Usher syndrome
Usher syndrome type 2A
Retinal dystrophy
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA228956

rs_137853923

10 SubmittersRCV000087007 RCV001376202 RCV002469009 RCV003445508 RCV001074825 RCV005008014

NM_032119.4(ADGRV1):c.4507G>A (p.Ala1503Thr)

SNV
Germline

Chr5:90658033

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2C
Retinal dystrophy
Usher syndrome type 2C
Febrile seizures, familial, 4

Criteria Provided
Conflicting Classifications

CA182179

rs_201391886

11 SubmittersRCV000155106 RCV000488366 RCV001151340 RCV004815186 RCV002483173

NM_206933.4(USH2A):c.3407G>A (p.Ser1136Asn)

SNV
Germline

Chr1:216200031

Pathogenic

Usher syndrome type 2A
Usher syndrome type 2A
Retinitis pigmentosa 39
Cone-rod dystrophy
Usher syndrome
Condition: not provided

Reviewed By Expert Panel

CA269917

rs_483353055

7 SubmittersRCV000119824 RCV000675179 RCV000787729 RCV001089677 RCV001231408

NM_206933.4(USH2A):c.7475C>A (p.Ser2492Ter)

SNV
Germline

Chr1:215900194

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA269919

rs_483353056

3 SubmittersRCV000119825 RCV000444053 RCV003453052

NM_032119.4(ADGRV1):c.-44C>T

SNV
Germline

Chr5:90558852

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 2C

Criteria Provided
Conflicting Classifications

CA291105

rs_192362302

2 SubmittersRCV000125288 RCV001152776

NM_032119.4(ADGRV1):c.1849G>A (p.Val617Met)

SNV
Germline

Chr5:90635123

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2C
ADGRV1-related disorder

Criteria Provided
Conflicting Classifications

CA291107

rs_199988872

11 SubmittersRCV000125295 RCV000725781 RCV000987533 RCV004737211

NM_032119.4(ADGRV1):c.2112G>A (p.Pro704=)

SNV
Germline

Chr5:90637820

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2C
ADGRV1-related disorder

Criteria Provided
Conflicting Classifications

CA291109

rs_182990046

6 SubmittersRCV000125297 RCV000725782 RCV001154171 RCV004551217

NM_032119.4(ADGRV1):c.12403+1G>T

SNV
Unknown

Chr5:90774304

Likely pathogenic

Usher syndrome type 2C

No Assertion Criteria Provided

CA270123

rs_527236132

1 SubmittersRCV000132685

NM_032119.4(ADGRV1):c.15736C>T (p.Arg5246Ter)

SNV
Germline

Chr5:90810996

Pathogenic

Usher syndrome type 2C
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA270124

rs_527236131

3 SubmittersRCV000132686 RCV001849953

NM_032119.4(ADGRV1):c.7006C>T (p.Arg2336Ter)

SNV
Germline

Chr5:90692659

Pathogenic

Usher syndrome type 2C
Condition: not provided
Rare genetic deafness

Criteria Provided
Multiple Submitters
No Conflicts

CA270126

rs_527236133

4 SubmittersRCV000132687 RCV001849954 RCV000844604

NM_206933.4(USH2A):c.11156G>A (p.Arg3719His)

SNV
Germline

Chr1:215759735

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Retinal dystrophy
Usher syndrome
USH2A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA270135

rs_527236139

23 SubmittersRCV000132701 RCV000504711 RCV000413588 RCV000665160 RCV000678643 RCV001074730 RCV003226212 RCV004732702

NM_206933.4(USH2A):c.12079C>T (p.Gln4027Ter)

SNV
Unknown

Chr1:215680364

Likely pathogenic

Usher syndrome type 2A

No Assertion Criteria Provided

CA270137

rs_527236138

1 SubmittersRCV000132702

NM_206933.4(USH2A):c.13010C>T (p.Thr4337Met)

SNV
Germline

Chr1:215674901

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Rare genetic deafness
Condition: not provided
Retinitis pigmentosa 39
Retinal dystrophy
Retinitis pigmentosa
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA270139

rs_527236137

15 SubmittersRCV000132703 RCV000824779 RCV001043740 RCV000983996 RCV001073283 RCV003324517 RCV005016461

NM_206933.4(USH2A):c.13847G>T (p.Gly4616Val)

SNV
Germline

Chr1:215671258

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Retinal dystrophy
Condition: not provided
Usher syndrome
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA270143

rs_527236124

8 SubmittersRCV000132705 RCV001075191 RCV002514759 RCV004525879 RCV005016462 RCV003453100

NM_206933.4(USH2A):c.14243C>T (p.Ser4748Phe)

SNV
Germline

Chr1:215650692

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Leber congenital amaurosis
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA270145

rs_527236126

7 SubmittersRCV000132706 RCV000144482 RCV000675147 RCV003888572 RCV002514760 RCV003462051

NM_206933.4(USH2A):c.15233C>G (p.Pro5078Arg)

SNV
Germline

Chr1:215634523

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome

Criteria Provided
Conflicting Classifications

CA270149

rs_527236122

9 SubmittersRCV000132708 RCV001221094 RCV003888573 RCV000490337 RCV003462052 RCV004767086

NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp)

SNV
Germline

Chr1:216246592

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Retinitis pigmentosa 39
Condition: not provided
Usher syndrome type 2A
Retinal dystrophy
Usher syndrome type 2
Usher syndrome
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA270152

rs_201527662

25 SubmittersRCV000132710 RCV000576637 RCV000595137 RCV000986542 RCV001074347 RCV001003277 RCV002469023 RCV004796037

NM_206933.4(USH2A):c.2983C>T (p.Gln995Ter)

SNV
Unknown

Chr1:216231963

Pathogenic

Usher syndrome type 2A

No Assertion Criteria Provided

CA270154

rs_527236135

1 SubmittersRCV000132711

NM_032119.4(ADGRV1):c.1797A>T (p.Arg599Ser)

SNV
Germline

Chr5:90629497

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA172270

rs_200058876

5 SubmittersRCV000146071 RCV000987532 RCV000725730

NM_032119.4(ADGRV1):c.1855T>G (p.Leu619Val)

SNV
Germline

Chr5:90635129

Conflicting classifications of pathogenicity

Febrile seizures, familial, 4
not specified
Condition: not provided
Usher syndrome type 2C

Criteria Provided
Conflicting Classifications

CA182165

rs_202064612

7 SubmittersRCV000146074 RCV000155099 RCV000725995 RCV001152891

NM_032119.4(ADGRV1):c.9650C>T (p.Ala3217Val)

SNV
Germline

Chr5:90720961

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2C
Febrile seizures, familial, 1

Criteria Provided
Conflicting Classifications

CA172279

rs_114137750

11 SubmittersRCV000146084 RCV000433341 RCV000714565 RCV000714566

NM_206933.4(USH2A):c.13808A>C (p.His4603Pro)

SNV
Germline

Chr1:215674103

Likely pathogenic

not specified
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
Usher syndrome
Condition: not provided

Reviewed By Expert Panel

CA183350

rs_727504551

5 SubmittersRCV000155713 RCV000671700 RCV001073548 RCV002250425 RCV001850131

NM_206933.4(USH2A):c.5048A>G (p.Asn1683Ser)

SNV
Germline

Chr1:216084817

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2A
Retinal dystrophy
USH2A-related disorder

Criteria Provided
Conflicting Classifications

CA182602

rs_140080678

7 SubmittersRCV000155329 RCV000723740 RCV001273050 RCV004815235 RCV004732716

NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp)

SNV
Germline

Chr1:216084853

Pathogenic

not specified
Retinitis pigmentosa
Condition: not provided
Usher syndrome
Retinal dystrophy
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39
USH2A-related disorder

Reviewed By Expert Panel

CA185105

rs_727505116

12 SubmittersRCV000156571 RCV000505112 RCV000725477 RCV001004787 RCV003991016 RCV005008063 RCV003462063 RCV004528894

NM_206933.4(USH2A):c.15581G>A (p.Arg5194His)

SNV
Germline

Chr1:215625809

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA185216

rs_727505155

3 SubmittersRCV000156623 RCV000668542 RCV003311698

NM_206933.4(USH2A):c.14803C>T (p.Arg4935Ter)

SNV
Germline

Chr1:215640723

Pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A
Rare genetic deafness
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 39
Usher syndrome type 2A
USH2A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA273457

rs_146733615

10 SubmittersRCV000411616 RCV000410556 RCV000824777 RCV001054211 RCV001073844 RCV002505168 RCV004544405

NM_206933.4(USH2A):c.14753C>T (p.Thr4918Met)

SNV
Germline

Chr1:215647560

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Retinal dystrophy
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA180690

rs_56136489

10 SubmittersRCV000154359 RCV000724181 RCV004815236 RCV001272929

NM_206933.4(USH2A):c.14248C>T (p.Gln4750Ter)

SNV
Germline

Chr1:215650687

Pathogenic

Rare genetic deafness
Usher syndrome type 2A
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA273630

rs_727504867

6 SubmittersRCV000156228 RCV001826849 RCV002515013 RCV005016474 RCV003453191

NM_206933.4(USH2A):c.5624A>G (p.Asn1875Ser)

SNV
Germline

Chr1:216073249

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2A
USH2A-related disorder

Criteria Provided
Conflicting Classifications

CA182598

rs_141609561

9 SubmittersRCV000155327 RCV000891558 RCV000986533 RCV004534990

NM_206933.4(USH2A):c.12598T>G (p.Trp4200Gly)

SNV
Germline

Chr1:215675313

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA182586

rs_114116572

6 SubmittersRCV000155321 RCV000724907 RCV001272951 RCV004019860

NM_206933.4(USH2A):c.11815G>A (p.Glu3939Lys)

SNV
Germline

Chr1:215728281

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA182588

rs_146264950

14 SubmittersRCV000155322 RCV000664687 RCV001274938 RCV001579277 RCV001244553 RCV004815242

NM_206933.4(USH2A):c.10904C>A (p.Thr3635Asn)

SNV
Germline

Chr1:215779878

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Usher syndrome type 2A
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA185250

rs_727505166

5 SubmittersRCV000156642 RCV000763828 RCV002516341 RCV001271141 RCV003888605

NM_206933.4(USH2A):c.10826G>T (p.Ser3609Ile)

SNV
Germline

Chr1:215779956

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA180688

rs_727504307

6 SubmittersRCV000154358 RCV000732182 RCV001273696 RCV004019848

NM_206933.4(USH2A):c.9842G>T (p.Cys3281Phe)

SNV
Germline

Chr1:215799023

Conflicting classifications of pathogenicity

not specified
Retinal dystrophy
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA183787

rs_727504654

9 SubmittersRCV000155917 RCV001074861 RCV001273698 RCV001376534 RCV000666703 RCV001227049

NM_206933.4(USH2A):c.9307A>G (p.Ile3103Val)

SNV
Germline

Chr1:215838055

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA179526

rs_143352618

4 SubmittersRCV000152585 RCV000673073 RCV001244965

NM_206933.4(USH2A):c.8993C>G (p.Ser2998Cys)

SNV
Germline

Chr1:215845886

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA179529

rs_559922535

3 SubmittersRCV000152588 RCV001307268 RCV000671038

NM_206933.4(USH2A):c.8559-7G>A

SNV
Germline

Chr1:215877887

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA179533

rs_199618999

4 SubmittersRCV000152593 RCV000727256 RCV001276967

NM_206933.4(USH2A):c.6398G>A (p.Trp2133Ter)

SNV
Germline

Chr1:216000490

Pathogenic/Likely pathogenic

Rare genetic deafness
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA273288

rs_727503725

4 SubmittersRCV000152604 RCV001376394 RCV003453130 RCV003688831

NM_206933.4(USH2A):c.3648C>T (p.Tyr1216=)

SNV
Germline

Chr1:216199790

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa
Usher syndrome type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA179572

rs_147947402

6 SubmittersRCV000152620 RCV000288419 RCV000403072 RCV000905750

NM_206933.4(USH2A):c.3139C>G (p.Leu1047Val)

SNV
Germline

Chr1:216217405

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA179578

rs_727503735

5 SubmittersRCV000152627 RCV001097183 RCV000918519 RCV001097182 RCV005394520

NM_206933.4(USH2A):c.3043C>T (p.His1015Tyr)

SNV
Germline

Chr1:216217501

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA179580

rs_142302070

5 SubmittersRCV000152628 RCV000477797 RCV001034259

NM_206933.4(USH2A):c.2510G>A (p.Arg837Gln)

SNV
Germline

Chr1:216246884

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA179584

rs_148594393

6 SubmittersRCV000152631 RCV000881023 RCV001100749 RCV001100750

NM_206933.4(USH2A):c.1448C>T (p.Thr483Met)

SNV
Germline

Chr1:216323576

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA183926

rs_201847741

3 SubmittersRCV000155979 RCV000943628 RCV000666822

NM_206933.4(USH2A):c.821G>A (p.Arg274Gln)

SNV
Germline

Chr1:216327618

Conflicting classifications of pathogenicity

Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome type 2A
not specified
Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA183997

rs_727504721

7 SubmittersRCV000673498 RCV001831971 RCV000156012 RCV001731487 RCV003462061

NM_206933.4(USH2A):c.486-13G>A

SNV
Germline

Chr1:216418692

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 2A
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA179592

rs_116367260

4 SubmittersRCV000152636 RCV001097551 RCV001097552 RCV001520496

NM_206933.4(USH2A):c.12575G>A (p.Arg4192His)

SNV
Germline

Chr1:215675336

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
Usher syndrome
USH2A-related disorder
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA179511

rs_199605265

23 SubmittersRCV000152569 RCV000480057 RCV000505125 RCV000675140 RCV001004143 RCV001074420 RCV003226215 RCV004532711 RCV005016470

NM_206933.4(USH2A):c.12275G>A (p.Arg4092Lys)

SNV
Germline

Chr1:215680168

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA185267

rs_727505170

5 SubmittersRCV001238988 RCV000156650 RCV000666738

NM_206933.4(USH2A):c.11822G>A (p.Arg3941Gln)

SNV
Germline

Chr1:215728274

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA183417

rs_727504582

3 SubmittersRCV000155755 RCV000671917 RCV004700483

NM_206933.4(USH2A):c.11734G>A (p.Glu3912Lys)

SNV
Germline

Chr1:215728362

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 2A
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA182590

rs_142617606

5 SubmittersRCV000155323 RCV001271132 RCV001473378 RCV002514994

NM_206933.4(USH2A):c.11597C>T (p.Ala3866Val)

SNV
Germline

Chr1:215741489

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA182592

rs_138326802

5 SubmittersRCV000155324 RCV001531657 RCV001197770

NM_206933.4(USH2A):c.11440G>T (p.Gly3814Ter)

SNV
Germline

Chr1:215743285

Pathogenic

Rare genetic deafness
Retinitis pigmentosa
Usher syndrome type 2A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA273676

rs_727505337

4 SubmittersRCV000156887 RCV000787718 RCV003453204 RCV002515040

NM_206933.4(USH2A):c.9688G>A (p.Ala3230Thr)

SNV
Germline

Chr1:215813787

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Inborn genetic diseases
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA185062

rs_528342000

7 SubmittersRCV000156547 RCV000727102 RCV002515026 RCV001276957

NM_206933.4(USH2A):c.6590C>T (p.Thr2197Ile)

SNV
Germline

Chr1:215998954

Conflicting classifications of pathogenicity

not specified
Usher syndrome
Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA179546

rs_140487302

11 SubmittersRCV000152602 RCV000504981 RCV000669599 RCV001826815 RCV001240603

NM_206933.4(USH2A):c.4378G>A (p.Gly1460Arg)

SNV
Germline

Chr1:216190241

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome
USH2A-related disorder

Criteria Provided
Conflicting Classifications

CA182604

rs_139311927

8 SubmittersRCV000155330 RCV000765070 RCV001381659 RCV001276257 RCV001376456 RCV003479024 RCV004732718

NM_206933.4(USH2A):c.3801G>A (p.Ala1267=)

SNV
Germline

Chr1:216199637

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa
Usher syndrome type 2A
Retinal dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA179570

rs_537863698

5 SubmittersRCV000152619 RCV000295631 RCV000389900 RCV001075377 RCV001207755

NM_206933.4(USH2A):c.3395G>A (p.Gly1132Asp)

SNV
Germline

Chr1:216200043

Conflicting classifications of pathogenicity

not specified
Usher syndrome
Condition: not provided
Retinitis pigmentosa
Usher syndrome type 2A
USH2A-related disorder

Criteria Provided
Conflicting Classifications

CA179576

rs_34596189

12 SubmittersRCV000152625 RCV000504687 RCV000894588 RCV001100644 RCV001100645 RCV004544387

NM_206933.4(USH2A):c.2541C>A (p.Cys847Ter)

SNV
Germline

Chr1:216246853

Pathogenic

Rare genetic deafness
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA273290

rs_727503736

4 SubmittersRCV000152630 RCV001857523 RCV003474803 RCV003453141

NM_206933.4(USH2A):c.2332G>T (p.Asp778Tyr)

SNV
Germline

Chr1:216247062

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Retinal dystrophy
Usher syndrome
Usher syndrome type 2A
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA182608

rs_142898216

9 SubmittersRCV000155332 RCV001051381 RCV001073261 RCV001804867 RCV001810429 RCV005016473

NM_206933.4(USH2A):c.2001C>T (p.His667=)

SNV
Germline

Chr1:216251069

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA182606

rs_142870255

9 SubmittersRCV000155331 RCV000396635 RCV000925735 RCV000310998

NM_206933.4(USH2A):c.1608C>T (p.Cys536=)

SNV
Germline

Chr1:216321919

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Retinitis pigmentosa
Usher syndrome type 2A
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA179586

rs_187380128

6 SubmittersRCV000152632 RCV000941463 RCV001097357 RCV001101111 RCV003888580

NM_206933.4(USH2A):c.1530C>T (p.Asp510=)

SNV
Germline

Chr1:216323494

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa
Condition: not provided
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA183450

rs_200940197

7 SubmittersRCV000155770 RCV000336096 RCV000827304 RCV000388226

NM_206933.4(USH2A):c.632G>A (p.Trp211Ter)

SNV
Germline

Chr1:216418533

Pathogenic

Rare genetic deafness
Usher syndrome
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA273632

rs_727504893

3 SubmittersRCV000156272 RCV003479025 RCV003462062

NM_206933.4(USH2A):c.485+12T>C

SNV
Germline

Chr1:216421840

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 2A
Retinitis pigmentosa
Retinal dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA179593

rs_201857884

5 SubmittersRCV000152638 RCV000349749 RCV000383355 RCV001073743 RCV001520246

NM_174878.3(CLRN1):c.660C>T (p.Asp220=)

SNV
Germline

Chr3:150927975

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 3
Condition: not provided
Usher syndrome type 3A

Criteria Provided
Conflicting Classifications

CA182098

rs_148752352

7 SubmittersRCV000155062 RCV000382986 RCV000907924 RCV001273479

NM_032119.4(ADGRV1):c.207+3A>G

SNV
Germline

Chr5:90615022

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2C

Criteria Provided
Conflicting Classifications

CA182162

rs_142356935

6 SubmittersRCV000155097 RCV000710441 RCV001152780

NM_032119.4(ADGRV1):c.853C>G (p.Arg285Gly)

SNV
Germline

Chr5:90627391

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2C
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA182163

rs_200197273

8 SubmittersRCV000155098 RCV000710465 RCV001154893 RCV004815238

NM_032119.4(ADGRV1):c.1510-7A>T

SNV
Germline

Chr5:90629203

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2C
ADGRV1-related disorder

Criteria Provided
Conflicting Classifications

CA185856

rs_182260529

5 SubmittersRCV000156928 RCV000891867 RCV001156566 RCV004551353

NM_032119.4(ADGRV1):c.1837C>A (p.Gln613Lys)

SNV
Germline

Chr5:90629537

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2C
Retinitis pigmentosa
ADGRV1-related disorder
Usher syndrome type 2

Criteria Provided
Conflicting Classifications

CA176188

rs_199587998

12 SubmittersRCV000150755 RCV000725188 RCV001152888 RCV001589003 RCV004551304 RCV005359319

NM_032119.4(ADGRV1):c.5282C>G (p.Ser1761Cys)

SNV
Germline

Chr5:90675414

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2C
ADGRV1-related disorder

Criteria Provided
Conflicting Classifications

CA176191

rs_200392821

6 SubmittersRCV000150758 RCV000724365 RCV001155222 RCV004737231

NM_032119.4(ADGRV1):c.7873C>T (p.Arg2625Cys)

SNV
Germline

Chr5:90694629

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2C
Febrile seizures, familial, 4
Usher syndrome type 2C
Inborn genetic diseases
ADGRV1-related disorder

Criteria Provided
Conflicting Classifications

CA183383

rs_201583659

8 SubmittersRCV000155734 RCV000710462 RCV000765844 RCV001157105 RCV002516135 RCV004551348

NM_032119.4(ADGRV1):c.9447+6G>A

SNV
Germline

Chr5:90716735

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2C

Criteria Provided
Conflicting Classifications

CA176205

rs_201481219

10 SubmittersRCV000150766 RCV000724883 RCV001157221

NM_032119.4(ADGRV1):c.10527C>T (p.Ser3509=)

SNV
Germline

Chr5:90729742

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2C

Criteria Provided
Conflicting Classifications

CA182185

rs_201475256

6 SubmittersRCV000155109 RCV000908473 RCV001155645

NM_032119.4(ADGRV1):c.11745T>C (p.Phe3915=)

SNV
Germline

Chr5:90756618

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2C
ADGRV1-related disorder

Criteria Provided
Conflicting Classifications

CA185456

rs_201453118

5 SubmittersRCV000156733 RCV000879968 RCV001151872 RCV004551349

NM_032119.4(ADGRV1):c.12489G>C (p.Gly4163=)

SNV
Germline

Chr5:90776538

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 2C

Criteria Provided
Conflicting Classifications

CA176233

rs_727503080

2 SubmittersRCV000150782 RCV001157418

NM_032119.4(ADGRV1):c.14427A>G (p.Glu4809=)

SNV
Germline

Chr5:90791256

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2C

Criteria Provided
Conflicting Classifications

CA183672

rs_727504605

3 SubmittersRCV000155856 RCV000933627 RCV001157527

NM_032119.4(ADGRV1):c.14761G>A (p.Ala4921Thr)

SNV
Germline

Chr5:90805383

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Inborn genetic diseases
Usher syndrome type 2

Criteria Provided
Conflicting Classifications

CA182198

rs_200115167

10 SubmittersRCV000155116 RCV000724660 RCV002514982 RCV005359332

NM_032119.4(ADGRV1):c.1522A>C (p.Ile508Leu)

SNV
Germline

Chr5:90629222

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2C
ADGRV1-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA176186

rs_61744480

10 SubmittersRCV000150754 RCV000891203 RCV001156567 RCV004551303 RCV004815215

NM_032119.4(ADGRV1):c.2119A>T (p.Ile707Leu)

SNV
Germline

Chr5:90637827

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2C
ADGRV1-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA182167

rs_200897149

7 SubmittersRCV000155100 RCV000897118 RCV001154172 RCV004551339 RCV004019856

NM_032119.4(ADGRV1):c.2261T>C (p.Val754Ala)

SNV
Germline

Chr5:90642656

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2

Criteria Provided
Conflicting Classifications

CA182169

rs_374609813

3 SubmittersRCV000155101 RCV001514610 RCV005359331

NM_032119.4(ADGRV1):c.7867G>A (p.Glu2623Lys)

SNV
Germline

Chr5:90694623

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 2C
Condition: not provided
Inborn genetic diseases
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA176199

rs_146526977

8 SubmittersRCV000150763 RCV001157104 RCV001312581 RCV002514899 RCV004815216

NM_032119.4(ADGRV1):c.9558C>T (p.Thr3186=)

SNV
Germline

Chr5:90720158

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2C

Criteria Provided
Conflicting Classifications

CA176206

rs_201089046

5 SubmittersRCV000150767 RCV000728496 RCV001151753

NM_032119.4(ADGRV1):c.11201T>C (p.Val3734Ala)

SNV
Germline

Chr5:90753653

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2C
ADGRV1-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA176218

rs_113498662

8 SubmittersRCV000150773 RCV000766419 RCV001157314 RCV004551308 RCV002516027

NM_032119.4(ADGRV1):c.11974G>A (p.Asp3992Asn)

SNV
Germline

Chr5:90759442

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2C
ADGRV1-related disorder

Criteria Provided
Conflicting Classifications

CA182189

rs_201386977

13 SubmittersRCV000155111 RCV000585241 RCV001153109 RCV004551343

NM_032119.4(ADGRV1):c.12181G>T (p.Val4061Phe)

SNV
Germline

Chr5:90763365

Conflicting classifications of pathogenicity

not specified
Febrile seizures, familial, 4
Usher syndrome type 2C
Condition: not provided
Hearing impairment
Usher syndrome type 2C

Criteria Provided
Conflicting Classifications

CA176223

rs_200816323

12 SubmittersRCV000150777 RCV000765850 RCV000729114 RCV001375219 RCV001153111

NM_032119.4(ADGRV1):c.12212G>A (p.Arg4071Gln)

SNV
Germline

Chr5:90763396

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2C

Criteria Provided
Conflicting Classifications

CA182191

rs_202190568

8 SubmittersRCV000155112 RCV000514796 RCV001155715

NM_032119.4(ADGRV1):c.12631C>T (p.Arg4211Ter)

SNV
Germline

Chr5:90778008

Pathogenic

Rare genetic deafness
Condition: not provided
Usher syndrome type 2C
Febrile seizures, familial, 4

Criteria Provided
Multiple Submitters
No Conflicts

CA273611

rs_727504777

3 SubmittersRCV000156094 RCV002515009 RCV005042305

NM_032119.4(ADGRV1):c.12830G>T (p.Arg4277Leu)

SNV
Germline

Chr5:90778590

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA184356

rs_571603222

3 SubmittersRCV000156195 RCV001151951 RCV003660764

NM_032119.4(ADGRV1):c.13496G>A (p.Arg4499His)

SNV
Germline

Chr5:90783900

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA184684

rs_375122809

7 SubmittersRCV000156365 RCV000724676 RCV001153220 RCV004019877

NM_032119.4(ADGRV1):c.16312A>G (p.Thr5438Ala)

SNV
Germline

Chr5:90823540

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2C
ADGRV1-related disorder
Febrile seizures, familial, 4

Criteria Provided
Conflicting Classifications

CA182202

rs_201890097

8 SubmittersRCV000155118 RCV000724031 RCV001157635 RCV004737241 RCV003988829

NM_032119.4(ADGRV1):c.16699G>A (p.Val5567Ile)

SNV
Germline

Chr5:90840665

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA176246

rs_201677553

6 SubmittersRCV000150789 RCV001035642 RCV001152167 RCV004975298

NM_015404.4(WHRN):c.1992G>A (p.Pro664=)

SNV
Germline

Chr9:114406599

Conflicting classifications of pathogenicity

not specified
Condition: not provided
WHRN-related disorder
Autosomal recessive nonsyndromic hearing loss 31
Usher syndrome type 2D

Criteria Provided
Conflicting Classifications

CA182132

rs_142568702

6 SubmittersRCV000155080 RCV000907763 RCV003927500 RCV000308124 RCV000393724

NM_015404.4(WHRN):c.1627-5T>A

SNV
Germline

Chr9:114408023

Conflicting classifications of pathogenicity

not specified
Retinal dystrophy
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 31
Usher syndrome type 2D
WHRN-related disorder

Criteria Provided
Conflicting Classifications

CA175638

rs_187221008

8 SubmittersRCV000150390 RCV000225418 RCV000723851 RCV001167987 RCV001167988 RCV004757965

NM_001384140.1(PCDH15):c.1256A>G (p.Asn419Ser)

SNV
Germline

Chr10:54195732

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA177601

rs_143827620

4 SubmittersRCV000151635 RCV001071653 RCV001103156

NM_001384140.1(PCDH15):c.1141C>G (p.Leu381Val)

SNV
Germline

Chr10:54195847

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1F
Condition: not provided

Criteria Provided
Conflicting Classifications

CA177605

rs_373453298

4 SubmittersRCV000151637 RCV001835689 RCV002516047

NM_022124.6(CDH23):c.574G>C (p.Glu192Gln)

SNV
Germline

Chr10:71566886

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1D
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 12
CDH23-related disorder
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA182058

rs_199514829

7 SubmittersRCV000155039 RCV000263904 RCV000935082 RCV000356306 RCV004534983 RCV001831961

NM_015404.4(WHRN):c.19G>C (p.Gly7Arg)

SNV
Germline

Chr9:114504783

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 31
Usher syndrome type 2D
Condition: not provided

Criteria Provided
Conflicting Classifications

CA184257

rs_572671060

5 SubmittersRCV000156142 RCV001168958 RCV001168959 RCV001422011

NM_033056.4(PCDH15):c.4974A>C (p.Ser1658=)

SNV
Germline

Chr10:53822752

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA182480

rs_147993163

5 SubmittersRCV000155267 RCV001108158 RCV000930978

NM_001384140.1(PCDH15):c.3724G>A (p.Val1242Met)

SNV
Germline

Chr10:53857257

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1
Usher syndrome type 1F

Criteria Provided
Conflicting Classifications

CA182484

rs_201137087

5 SubmittersRCV000155269 RCV000892246 RCV001106029 RCV001273382

NM_001384140.1(PCDH15):c.2884C>T (p.Arg962Cys)

SNV
Germline

Chr10:53961877

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1
Condition: not provided
Usher syndrome type 1F
PCDH15-related disorder

Criteria Provided
Conflicting Classifications

CA177588

rs_201816080

9 SubmittersRCV000151628 RCV000343106 RCV000890106 RCV000988360 RCV004734707

NM_001384140.1(PCDH15):c.2290C>T (p.Arg764Cys)

SNV
Germline

Chr10:54023128

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1
Usher syndrome type 1F
Autosomal recessive nonsyndromic hearing loss 23
Usher syndrome type 1D
Usher syndrome type 1F

Criteria Provided
Conflicting Classifications

CA177592

rs_192813057

8 SubmittersRCV000151630 RCV000712511 RCV001104968 RCV001273396 RCV005394510

NM_000260.4(MYO7A):c.3856G>A (p.Ala1286Thr)

SNV
Germline

Chr11:77190802

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided
Retinal dystrophy
Usher syndrome type 1B

Criteria Provided
Conflicting Classifications

CA177388

rs_727503328

5 SubmittersRCV000151504 RCV000666382 RCV001314043 RCV001073912 RCV001273494

NM_000260.4(MYO7A):c.3925-8G>A

SNV
Germline

Chr11:77192043

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2
Condition: not provided
Autosomal dominant nonsyndromic hearing loss 11
MYO7A-related disorder

Criteria Provided
Conflicting Classifications

CA182418

rs_367645097

5 SubmittersRCV000155232 RCV001113086 RCV001113088 RCV000828165 RCV001113087 RCV004734731

NM_000260.4(MYO7A):c.4153-8C>T

SNV
Germline

Chr11:77194346

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA182419

rs_143216377

5 SubmittersRCV000155233 RCV000904231 RCV001111183 RCV001111184 RCV001111185

NM_000260.4(MYO7A):c.4441+7C>T

SNV
Germline

Chr11:77197605

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1B
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA177392

rs_372493678

7 SubmittersRCV000151510 RCV000724056 RCV001271762 RCV001073918

NM_000260.4(MYO7A):c.4845C>A (p.Pro1615=)

SNV
Germline

Chr11:77199811

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11

Criteria Provided
Conflicting Classifications

CA182688

rs_61900036

7 SubmittersRCV000155379 RCV001111382 RCV000971579 RCV001111381 RCV001111383

NM_000260.4(MYO7A):c.5172C>G (p.Pro1724=)

SNV
Germline

Chr11:77203063

Conflicting classifications of pathogenicity

not specified
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided
Usher syndrome type 1B
MYO7A-related disorder

Criteria Provided
Conflicting Classifications

CA184811

rs_727505004

5 SubmittersRCV000156425 RCV000332953 RCV000277884 RCV000373643 RCV000944578 RCV001272807 RCV004734741

NM_001384140.1(PCDH15):c.942A>G (p.Gln314=)

SNV
Germline

Chr10:54236866

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA182486

rs_149481989

3 SubmittersRCV000155270 RCV000981578 RCV001105074

NM_022124.6(CDH23):c.856C>T (p.Leu286=)

SNV
Germline

Chr10:71615527

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
CDH23-related disorder

Criteria Provided
Conflicting Classifications

CA175459

rs_727502918

4 SubmittersRCV000150271 RCV000913374 RCV001108339 RCV001108338 RCV004544349

NM_022124.6(CDH23):c.1089C>T (p.Val363=)

SNV
Germline

Chr10:71617348

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D

Criteria Provided
Conflicting Classifications

CA183751

rs_556135873

4 SubmittersRCV000155894 RCV000920382 RCV001105077 RCV001105078

NM_022124.6(CDH23):c.1301A>G (p.Asn434Ser)

SNV
Germline

Chr10:71646469

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA175461

rs_139287714

5 SubmittersRCV000150275 RCV000731528 RCV001275925

NM_022124.6(CDH23):c.2112C>T (p.Tyr704=)

SNV
Germline

Chr10:71690520

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Usher syndrome type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA175471

rs_565266663

4 SubmittersRCV000150281 RCV000312924 RCV000367471 RCV001280204 RCV001417999

NM_022124.6(CDH23):c.2236G>A (p.Val746Ile)

SNV
Germline

Chr10:71694206

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 12
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Pituitary adenoma 5, multiple types
Usher syndrome type 1D
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA175475

rs_550384315

10 SubmittersRCV000150283 RCV000657974 RCV001105264 RCV000764912 RCV001105265 RCV001275937

NM_022124.6(CDH23):c.3230C>T (p.Pro1077Leu)

SNV
Germline

Chr10:71712674

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Retinal dystrophy
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA175482

rs_202101019

5 SubmittersRCV000150288 RCV001046427 RCV001075173 RCV001835686

NM_022124.6(CDH23):c.4203C>T (p.Thr1401=)

SNV
Germline

Chr10:71734338

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
CDH23-related disorder

Criteria Provided
Conflicting Classifications

CA182636

rs_202166096

5 SubmittersRCV000155355 RCV000827161 RCV001107422 RCV001107423 RCV004534993

NM_022124.6(CDH23):c.4405A>G (p.Ile1469Val)

SNV
Germline

Chr10:71739689

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Pituitary adenoma 5, multiple types
Pituitary adenoma 5, multiple types
Retinal dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA185013

rs_200635365

13 SubmittersRCV000766640 RCV001106863 RCV000778901 RCV001835699 RCV002492595 RCV003474814 RCV004815250 RCV005055634

NM_022124.6(CDH23):c.4704C>T (p.Thr1568=)

SNV
Germline

Chr10:71741780

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA184026

rs_186866326

5 SubmittersRCV000156024 RCV000725853 RCV001826844

NM_022124.6(CDH23):c.4875G>A (p.Val1625=)

SNV
Germline

Chr10:71777709

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12

Criteria Provided
Conflicting Classifications

CA182073

rs_149664909

8 SubmittersRCV000155048 RCV000896265 RCV001826832 RCV001106973 RCV001106974

NM_022124.6(CDH23):c.5022C>T (p.Ile1674=)

SNV
Germline

Chr10:71777856

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12

Criteria Provided
Conflicting Classifications

CA175494

rs_376952695

4 SubmittersRCV000150296 RCV000916891 RCV001107631 RCV001107632

NM_022124.6(CDH23):c.5067+15G>A

SNV
Germline

Chr10:71777916

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Condition: not provided

Criteria Provided
Conflicting Classifications

CA182077

rs_367928867

3 SubmittersRCV000155050 RCV000292557 RCV000386845 RCV001519798

NM_022124.6(CDH23):c.6098C>T (p.Ser2033Leu)

SNV
Germline

Chr10:71791180

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA184255

rs_537971045

5 SubmittersRCV000156141 RCV000724950 RCV001275568

NM_022124.6(CDH23):c.6713-8G>A

SNV
Germline

Chr10:71797096

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Condition: not provided
Usher syndrome type 1
CDH23-related disorder

Criteria Provided
Conflicting Classifications

CA175506

rs_369946986

7 SubmittersRCV000150310 RCV000303590 RCV000347943 RCV000910899 RCV001274905 RCV004528874

NM_022124.6(CDH23):c.8311G>A (p.Gly2771Ser)

SNV
Germline

Chr10:71807518

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hearing impairment
Usher syndrome type 1D
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 12
Intellectual disability

Criteria Provided
Conflicting Classifications

CA180727

rs_201076440

11 SubmittersRCV000154384 RCV001053772 RCV001375066 RCV001102961 RCV001276918 RCV001102962 RCV005625333

NM_022124.6(CDH23):c.8823C>T (p.Asn2941=)

SNV
Germline

Chr10:71809920

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Condition: not provided

Criteria Provided
Conflicting Classifications

CA175526

rs_370184182

7 SubmittersRCV000150326 RCV001106037 RCV001106038 RCV000900337

NM_022124.6(CDH23):c.9617G>A (p.Arg3206His)

SNV
Germline

Chr10:71812874

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA175535

rs_374156784

4 SubmittersRCV000150331 RCV001067382 RCV001826807

NM_033056.4(PCDH15):c.5439A>C (p.Pro1813=)

SNV
Germline

Chr10:53822287

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1F
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA177575

rs_150303579

4 SubmittersRCV000151620 RCV000918866 RCV001449588 RCV001105921

NM_001384140.1(PCDH15):c.3807-6T>G

SNV
Germline

Chr10:53840502

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1F
Condition: not provided
PCDH15-related disorder

Criteria Provided
Conflicting Classifications

CA184196

rs_727504791

6 SubmittersRCV000156110 RCV000668863 RCV001246357 RCV004544448

NM_001384140.1(PCDH15):c.2194G>A (p.Ala732Thr)

SNV
Germline

Chr10:54066783

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1F
Optic atrophy

Criteria Provided
Conflicting Classifications

CA177594

rs_148162562

5 SubmittersRCV000151631 RCV001044754 RCV001273398 RCV004815217

NM_001384140.1(PCDH15):c.1927C>T (p.Arg643Ter)

SNV
Germline

Chr10:54090054

Pathogenic

Usher syndrome type 1F
Rare genetic deafness
Usher syndrome type 1D
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 23
Usher syndrome type 1D
Usher syndrome type 1F
Autosomal recessive nonsyndromic hearing loss 23

Criteria Provided
Multiple Submitters
No Conflicts

CA273444

rs_727504301

7 SubmittersRCV000154331 RCV000824734 RCV001002687 RCV001386498 RCV002498738 RCV004567176

NM_000260.4(MYO7A):c.3892G>A (p.Gly1298Arg)

SNV
Germline

Chr11:77190838

Pathogenic/Likely pathogenic

Usher syndrome type 1
Rare genetic deafness
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA278722

rs_727503329

9 SubmittersRCV000151505 RCV000844721 RCV001214273 RCV001808416 RCV005003494 RCV004597752

NM_000260.4(MYO7A):c.3979G>A (p.Glu1327Lys)

SNV
Germline

Chr11:77192105

Pathogenic/Likely pathogenic

Rare genetic deafness
Usher syndrome
Condition: not provided
Usher syndrome type 1B
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11

Criteria Provided
Multiple Submitters
No Conflicts

CA180657

rs_373169422

5 SubmittersRCV000154330 RCV003479023 RCV001850112 RCV001826829 RCV005008060

NM_000260.4(MYO7A):c.4153-8C>G

SNV
Germline

Chr11:77194346

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided
Usher syndrome type 1B
not specified

Criteria Provided
Conflicting Classifications

CA184411

rs_143216377

5 SubmittersRCV000664878 RCV001476029 RCV001271757 RCV000156221

NM_000260.4(MYO7A):c.4153-7C>A

SNV
Germline

Chr11:77194347

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Usher syndrome type 1B
MYO7A-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA185728

rs_369489756

6 SubmittersRCV000156864 RCV000666882 RCV001271758 RCV004734746 RCV000841788

NM_000260.4(MYO7A):c.4488G>A (p.Thr1496=)

SNV
Germline

Chr11:77198541

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11

Criteria Provided
Conflicting Classifications

CA177393

rs_376743356

4 SubmittersRCV000151511 RCV001770114 RCV005003495

NM_000260.4(MYO7A):c.4851C>T (p.Pro1617=)

SNV
Germline

Chr11:77199817

Conflicting classifications of pathogenicity

not specified
Nonsyndromic Hearing Loss, Dominant
Retinitis pigmentosa-deafness syndrome
Usher syndrome type 1B
Condition: not provided
Hearing loss, autosomal recessive

Criteria Provided
Conflicting Classifications

CA182424

rs_372535399

5 SubmittersRCV000155236 RCV000357884 RCV000323066 RCV001272800 RCV000733015 RCV004577727

NM_000260.4(MYO7A):c.5169-5G>A

SNV
Germline

Chr11:77203055

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1B
Condition: not provided
MYO7A-related disorder

Criteria Provided
Conflicting Classifications

CA185464

rs_727505232

5 SubmittersRCV000156737 RCV001272806 RCV001521351 RCV004535015

NM_000260.4(MYO7A):c.5253G>T (p.Pro1751=)

SNV
Germline

Chr11:77203144

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1B
MYO7A-related disorder

Criteria Provided
Conflicting Classifications

CA182426

rs_377388669

9 SubmittersRCV000155237 RCV000733418 RCV001273509 RCV004544433

NM_000260.4(MYO7A):c.5373C>T (p.Ser1791=)

SNV
Germline

Chr11:77204122

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided
Autosomal dominant nonsyndromic hearing loss 11

Criteria Provided
Conflicting Classifications

CA182432

rs_376301325

3 SubmittersRCV000155240 RCV001111577 RCV001111578 RCV000953292 RCV001111576

NM_000260.4(MYO7A):c.5495G>A (p.Arg1832Gln)

SNV
Germline

Chr11:77205476

Conflicting classifications of pathogenicity

not specified
Autosomal dominant nonsyndromic hearing loss 11
Condition: not provided
Usher syndrome type 1B

Criteria Provided
Conflicting Classifications

CA182436

rs_372768607

5 SubmittersRCV000155242 RCV000477766 RCV001241068 RCV001826836

NM_000260.4(MYO7A):c.6247G>A (p.Ala2083Thr)

SNV
Germline

Chr11:77211830

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1B
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Hearing impairment
Autosomal recessive nonsyndromic hearing loss 2
Inborn genetic diseases
Meniere disease

Criteria Provided
Conflicting Classifications

CA182438

rs_41298759

12 SubmittersRCV000155244 RCV001034255 RCV000765019 RCV001274807 RCV000290561 RCV000386123 RCV005625338 RCV001089552 RCV004019859 RCV001526687

NM_022124.6(CDH23):c.1867G>A (p.Val623Ile)

SNV
Germline

Chr10:71682453

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Pituitary adenoma 5, multiple types

Criteria Provided
Conflicting Classifications

CA182068

rs_143782870

4 SubmittersRCV000155045 RCV001060903 RCV001831962 RCV002484934

NM_022124.6(CDH23):c.2341G>A (p.Ala781Thr)

SNV
Germline

Chr10:71695469

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA182070

rs_375918283

3 SubmittersRCV000155046 RCV001051031 RCV001275940

NM_022124.6(CDH23):c.2954-14G>A

SNV
Germline

Chr10:71706883

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Condition: not provided
CDH23-related disorder

Criteria Provided
Conflicting Classifications

CA175478

rs_191534381

5 SubmittersRCV000150285 RCV000330526 RCV000387240 RCV001520333 RCV004528873

NM_022124.6(CDH23):c.3580-13C>T

SNV
Germline

Chr10:71730456

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Condition: not provided

Criteria Provided
Conflicting Classifications

CA182072

rs_150894638

4 SubmittersRCV000155047 RCV000394453 RCV000350161 RCV001510244

NM_022124.6(CDH23):c.4589C>T (p.Pro1530Leu)

SNV
Germline

Chr10:71740922

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1D
Condition: not provided
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 12

Criteria Provided
Conflicting Classifications

CA184239

rs_554938323

7 SubmittersRCV000156134 RCV000367580 RCV000918209 RCV001273546 RCV000315265

NM_022124.6(CDH23):c.4892C>T (p.Ala1631Val)

SNV
Germline

Chr10:71777726

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1D
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 12
Hearing loss, autosomal recessive
CDH23-related disorder

Criteria Provided
Conflicting Classifications

CA182075

rs_370762269

9 SubmittersRCV000155049 RCV000338894 RCV000900747 RCV000279211 RCV001291212 RCV004528887

NM_022124.6(CDH23):c.5821-13C>T

SNV
Germline

Chr10:71788927

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Condition: not provided

Criteria Provided
Conflicting Classifications

CA182080

rs_117317626

4 SubmittersRCV000155052 RCV000376677 RCV000322073 RCV001519574

NM_022124.6(CDH23):c.6050-15G>A

SNV
Germline

Chr10:71791117

Conflicting classifications of pathogenicity

not specified
Retinal dystrophy
Condition: not provided
Usher syndrome type 1D
Pituitary adenoma 5, multiple types
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Pituitary adenoma 5, multiple types

Criteria Provided
Conflicting Classifications

CA182081

rs_373838930

7 SubmittersRCV000155053 RCV001075025 RCV001305819 RCV001589015 RCV003474812 RCV005049433

NM_022124.6(CDH23):c.8290G>A (p.Val2764Met)

SNV
Germline

Chr10:71807388

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Inborn genetic diseases
Usher syndrome
CDH23-related disorder

Criteria Provided
Conflicting Classifications

CA175522

rs_556148352

7 SubmittersRCV000150324 RCV000928676 RCV001108166 RCV001108165 RCV002514890 RCV003389457 RCV004544350

NM_022124.6(CDH23):c.8886C>T (p.Asn2962=)

SNV
Germline

Chr10:71809983

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA175528

rs_376881824

5 SubmittersRCV000150327 RCV000727021 RCV001272661

NM_000260.4(MYO7A):c.6363G>A (p.Thr2121=)

SNV
Germline

Chr11:77212960

Conflicting classifications of pathogenicity

not specified
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Condition: not provided
Usher syndrome type 1
MYO7A-related disorder

Criteria Provided
Conflicting Classifications

CA182434

rs_367738288

6 SubmittersRCV000155241 RCV001111950 RCV001111952 RCV000842733 RCV001111951 RCV004544434

NM_000260.4(MYO7A):c.5418C>T (p.Ala1806=)

SNV
Germline

Chr11:77204167

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA182428

rs_368749248

3 SubmittersRCV000155238 RCV001112053 RCV001112054 RCV001112055 RCV001461873

NM_000260.4(MYO7A):c.5899C>T (p.Arg1967Ter)

SNV
Germline

Chr11:77208472

Pathogenic/Likely pathogenic

Usher syndrome type 1
Retinal dystrophy
Autosomal recessive nonsyndromic hearing loss 2
Rare genetic deafness
Condition: not provided
Usher syndrome type 1B
MYO7A-related disorder
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA278734

rs_376764423

10 SubmittersRCV000155243 RCV000225571 RCV000411148 RCV000844723 RCV001544789 RCV001831964 RCV004528890 RCV005008062

NM_000260.4(MYO7A):c.6326C>T (p.Thr2109Ile)

SNV
Germline

Chr11:77211909

Likely pathogenic

Rare genetic deafness
Condition: not provided
Usher syndrome

Reviewed By Expert Panel

CA278724

rs_377670513

5 SubmittersRCV000151522 RCV000591925 RCV001089684

NM_153676.4(USH1C):c.2410G>A (p.Ala804Thr)

SNV
Germline

Chr11:17498242

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1C

Criteria Provided
Conflicting Classifications

CA182565

rs_150593932

5 SubmittersRCV000155311 RCV000425626 RCV001103299

NM_153676.4(USH1C):c.684C>T (p.Ser228=)

SNV
Germline

Chr11:17524526

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA182573

rs_149172005

4 SubmittersRCV000155315 RCV001103385 RCV000839977

NM_153676.4(USH1C):c.114C>T (p.Asp38=)

SNV
Germline

Chr11:17531533

Conflicting classifications of pathogenicity

Usher syndrome type 1C
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA182724

rs_137962152

6 SubmittersRCV000340350 RCV000155399 RCV000891086

NM_153676.4(USH1C):c.2014-1G>A

SNV
Germline

Chr11:17505950

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1
Usher syndrome type 1C
USH1C-related disorder

Criteria Provided
Conflicting Classifications

CA182572

rs_150567427

6 SubmittersRCV000155314 RCV000725400 RCV001004553 RCV002290962 RCV004755780

NM_153676.4(USH1C):c.1086-13G>T

SNV
Germline

Chr11:17521007

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA179487

rs_200490320

4 SubmittersRCV000152554 RCV000271322 RCV001509793

NM_153676.4(USH1C):c.946G>C (p.Glu316Gln)

SNV
Germline

Chr11:17522857

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1C

Criteria Provided
Conflicting Classifications

CA182721

rs_35336155

9 SubmittersRCV000155398 RCV000889692 RCV001106340

NM_153676.4(USH1C):c.674+4G>A

SNV
Germline

Chr11:17526343

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1C

Criteria Provided
Conflicting Classifications

CA182720

rs_202095395

6 SubmittersRCV000155397 RCV000726548 RCV001103386

NM_153676.4(USH1C):c.186T>C (p.Ile62=)

SNV
Germline

Chr11:17531461

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1C

Criteria Provided
Conflicting Classifications

CA179494

rs_200239508

4 SubmittersRCV000152557 RCV000842340 RCV001106431

NM_173477.5(USH1G):c.717G>C (p.Lys239Asn)

SNV
Germline

Chr17:74920119

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome
Usher syndrome type 1G

Criteria Provided
Conflicting Classifications

CA184442

rs_544952984

5 SubmittersRCV000156240 RCV001517890 RCV003389459 RCV005394532

NM_173477.5(USH1G):c.1152C>T (p.Asp384=)

SNV
Germline

Chr17:74919684

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA183405

rs_569032124

3 SubmittersRCV000155744 RCV000309496 RCV001452693

NM_173477.5(USH1G):c.837C>G (p.Asp279Glu)

SNV
Germline

Chr17:74919999

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1G
USH1G-related disorder
Optic atrophy
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA182580

rs_142486910

11 SubmittersRCV000155318 RCV000725682 RCV000999863 RCV004544436 RCV004815241 RCV004815240

NM_173477.5(USH1G):c.310A>G (p.Met104Val)

SNV
Germline

Chr17:74920526

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1G
Hearing impairment

Criteria Provided
Conflicting Classifications

CA179499

rs_149529031

8 SubmittersRCV000152559 RCV001064558 RCV005025230 RCV001375211

NM_000260.4(MYO7A):c.397C>A (p.His133Asn)

SNV
Germline

Chr11:77156018

Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11
not specified
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Usher syndrome
Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1
Condition: not provided
Usher syndrome type 1B

Reviewed By Expert Panel

CA177366

rs_111033403

8 SubmittersRCV001115095 RCV001115096 RCV000151476 RCV000665283 RCV005252036 RCV005008057 RCV001054443 RCV001831942

NM_000260.4(MYO7A):c.977T>A (p.Leu326Gln)

SNV
Germline

Chr11:77158404

Likely pathogenic

Rare genetic deafness
Condition: not provided
Usher syndrome
Usher syndrome type 1
Hearing loss, autosomal recessive
Autosomal recessive nonsyndromic hearing loss 2
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11

Reviewed By Expert Panel

CA278720

rs_797044491

8 SubmittersRCV000151482 RCV000498129 RCV001252672 RCV001810427 RCV001291467 RCV004576924 RCV005008058

NM_000260.4(MYO7A):c.1006C>T (p.Arg336Cys)

SNV
Germline

Chr11:77159449

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11
Retinal dystrophy
Usher syndrome type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA177368

rs_369997614

4 SubmittersRCV000151483 RCV001109644 RCV001109643 RCV001075256 RCV001109642 RCV001514137

NM_000260.4(MYO7A):c.1583T>G (p.Leu528Arg)

SNV
Germline

Chr11:77162881

Likely pathogenic

Usher syndrome
Usher syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA177372

rs_797044492

2 SubmittersRCV000151486 RCV001808415

NM_000260.4(MYO7A):c.1726G>A (p.Asp576Asn)

SNV
Germline

Chr11:77166091

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA177374

rs_187165412

5 SubmittersRCV000151488 RCV000666745 RCV001033976

NM_000260.4(MYO7A):c.2106C>T (p.Arg702=)

SNV
Germline

Chr11:77175383

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1
MYO7A-related disorder

Criteria Provided
Conflicting Classifications

CA177380

rs_369787754

5 SubmittersRCV000151495 RCV000941064 RCV001109907 RCV001109908 RCV001109909 RCV004532683

NM_022124.6(CDH23):c.3301A>G (p.Ile1101Val)

SNV
Germline

Chr10:71712745

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA233645

rs_199510686

4 SubmittersRCV000152947 RCV000281132 RCV000338523 RCV003352781

NM_022124.6(CDH23):c.3022G>A (p.Val1008Met)

SNV
Germline

Chr10:71706965

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Pituitary adenoma 5, multiple types
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Condition: not provided
Usher syndrome type 1
not specified
Inborn genetic diseases
Pituitary adenoma 5, multiple types

Criteria Provided
Conflicting Classifications

CA233643

rs_201053044

9 SubmittersRCV000283445 RCV000402667 RCV000764913 RCV000723774 RCV001272551 RCV001195485 RCV002514944 RCV003474806

NM_022124.6(CDH23):c.6169A>G (p.Ile2057Val)

SNV
Germline

Chr10:71791251

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA233648

rs_573057228

4 SubmittersRCV000152950 RCV001275570 RCV004815225

NM_022124.6(CDH23):c.2940G>A (p.Thr980=)

SNV
Germline

Chr10:71705117

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA233641

rs_373631099

7 SubmittersRCV000214285 RCV000723810 RCV001108677 RCV001108676 RCV001272549

NM_032119.4(ADGRV1):c.5295C>G (p.Phe1765Leu)

SNV
Germline

Chr5:90675427

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA234096

rs_201388114

8 SubmittersRCV000153338 RCV000723731 RCV001155223 RCV004019835

NM_000260.4(MYO7A):c.470+1G>A

SNV
Germline

Chr11:77156092

Pathogenic

Rare genetic deafness
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Usher syndrome type 1B
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA278726

rs_797044510

8 SubmittersRCV000154316 RCV001028034 RCV000666967 RCV001831959 RCV002293422

NM_000260.4(MYO7A):c.73G>A (p.Gly25Arg)

SNV
Germline

Chr11:77142763

Pathogenic

Rare genetic deafness
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Retinal dystrophy
Usher syndrome type 1B
Usher syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA278727

rs_782252317

6 SubmittersRCV000154329 RCV000674570 RCV001073538 RCV001831960 RCV003330513 RCV001224495

NM_000260.4(MYO7A):c.2863G>A (p.Gly955Ser)

SNV
Germline

Chr11:77181548

Pathogenic/Likely pathogenic

Rare genetic deafness
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11

Criteria Provided
Multiple Submitters
No Conflicts

CA278729

rs_781988557

3 SubmittersRCV000154343 RCV001222349 RCV002478450

NM_000260.4(MYO7A):c.448C>A (p.Arg150=)

SNV
Germline

Chr11:77156069

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1B
Retinal dystrophy
Autosomal recessive nonsyndromic hearing loss 2

Criteria Provided
Conflicting Classifications

CA182403

rs_121965079

9 SubmittersRCV000155223 RCV000487904 RCV001115097 RCV001115098 RCV001274688 RCV004815239 RCV001109454

NM_000260.4(MYO7A):c.133-14C>T

SNV
Germline

Chr11:77147784

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA182405

rs_116228809

5 SubmittersRCV000155224 RCV000287875 RCV000389307 RCV000326626 RCV001513645

NM_000260.4(MYO7A):c.803A>G (p.Lys268Arg)

SNV
Germline

Chr11:77157346

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
MYO7A-related disorder
Autosomal recessive nonsyndromic hearing loss 2

Criteria Provided
Conflicting Classifications

CA182406

rs_184866544

9 SubmittersRCV000155225 RCV000724234 RCV001112307 RCV001112309 RCV005394527 RCV004534987 RCV001112308

NM_000260.4(MYO7A):c.1126A>G (p.Ile376Val)

SNV
Germline

Chr11:77160208

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Inborn genetic diseases
MYO7A-related disorder

Criteria Provided
Conflicting Classifications

CA182408

rs_368716988

6 SubmittersRCV000155226 RCV001040160 RCV001111942 RCV001111944 RCV001111943 RCV002516123 RCV004534988

NM_000260.4(MYO7A):c.1554+7C>T

SNV
Germline

Chr11:77162337

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Condition: not provided
Usher syndrome type 1B
MYO7A-related disorder

Criteria Provided
Conflicting Classifications

CA182412

rs_150114658

6 SubmittersRCV000155228 RCV000287143 RCV000402760 RCV000342098 RCV000903441 RCV001275902 RCV004734730

NM_000260.4(MYO7A):c.3086A>G (p.His1029Arg)

SNV
Germline

Chr11:77182132

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Condition: not provided
MYO7A-related disorder

Criteria Provided
Conflicting Classifications

CA182416

rs_60103800

6 SubmittersRCV000155231 RCV000345669 RCV000388720 RCV000288323 RCV000974265 RCV004534989

NM_000260.4(MYO7A):c.1208A>G (p.Tyr403Cys)

SNV
Germline

Chr11:77160980

Likely pathogenic

Rare genetic deafness
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Usher syndrome

Reviewed By Expert Panel

CA278736

rs_797044511

5 SubmittersRCV000155424 RCV000594093 RCV000675112 RCV001089675

NM_000260.4(MYO7A):c.1903T>C (p.Cys635Arg)

SNV
Germline

Chr11:77172853

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome

Criteria Provided
Conflicting Classifications

CA183808

rs_797044514

4 SubmittersRCV001347350 RCV004689630

NM_000260.4(MYO7A):c.3503G>A (p.Arg1168Gln)

SNV
Germline

Chr11:77184715

Pathogenic

not specified
Inborn genetic diseases
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Usher syndrome
Retinal dystrophy
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
MYO7A-related disorder
Condition: not provided

Reviewed By Expert Panel

CA184505

rs_797044516

10 SubmittersRCV000156269 RCV000623408 RCV000675162 RCV001004779 RCV004815249 RCV005003503 RCV004734740 RCV001091732

NM_000260.4(MYO7A):c.1A>G (p.Met1Val)

SNV
Germline

Chr11:77130635

Pathogenic/Likely pathogenic

Rare genetic deafness
Usher syndrome type 1
Condition: not provided
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA278743

rs_797044518

4 SubmittersRCV000156361 RCV002463651 RCV003764969 RCV003398813

NM_000260.4(MYO7A):c.758A>G (p.His253Arg)

SNV
Germline

Chr11:77157301

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1B
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA184923

rs_375200566

5 SubmittersRCV000156478 RCV001826852 RCV001571850 RCV002515021

NM_000260.4(MYO7A):c.514C>T (p.Leu172=)

SNV
Germline

Chr11:77156703

Conflicting classifications of pathogenicity

not specified
Autosomal dominant nonsyndromic hearing loss 11
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA185247

rs_368246776

7 SubmittersRCV000156640 RCV001112218 RCV000939943 RCV001112219 RCV001112220

NM_000260.4(MYO7A):c.1543A>C (p.Lys515Gln)

SNV
Germline

Chr11:77162319

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Condition: not provided
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2

Criteria Provided
Conflicting Classifications

CA185300

rs_782023308

6 SubmittersRCV000156665 RCV000664469 RCV001110523 RCV000979350 RCV001110524 RCV005394533 RCV001110522

NM_001384140.1(PCDH15):c.3717+1G>A

SNV
Germline

Chr10:53866641

Pathogenic/Likely pathogenic

Usher syndrome type 1F
Condition: not provided
Usher syndrome type 1D
Usher syndrome type 1F
Autosomal recessive nonsyndromic hearing loss 23
Autosomal recessive nonsyndromic hearing loss 23

Criteria Provided
Multiple Submitters
No Conflicts

CA274358

rs_748706627

5 SubmittersRCV000169489 RCV001850401 RCV005042358 RCV003474915

NM_000260.4(MYO7A):c.2489G>A (p.Arg830His)

SNV
Germline

Chr11:77179856

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
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
Usher syndrome type 1B

Criteria Provided
Conflicting Classifications

CA235843

rs_371029653

10 SubmittersRCV000171199 RCV000307060 RCV000365276 RCV000395526 RCV000675124 RCV000765014 RCV001831992

NM_015404.4(WHRN):c.2237-10C>G

SNV
Germline

Chr9:114404087

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2D
Autosomal recessive nonsyndromic hearing loss 31

Criteria Provided
Conflicting Classifications

CA239327

rs_200131193

4 SubmittersRCV000173869 RCV001167310 RCV001167311

NM_032119.4(ADGRV1):c.1854G>A (p.Glu618=)

SNV
Germline

Chr5:90635128

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2C

Criteria Provided
Conflicting Classifications

CA239377

rs_376904160

3 SubmittersRCV000173908 RCV001152890

NM_015404.4(WHRN):c.2644C>A (p.Arg882Ser)

SNV
Germline

Chr9:114402834

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 31
Usher syndrome type 2D
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA239906

rs_150586098

9 SubmittersRCV000174376 RCV001165659 RCV001165660 RCV000724279 RCV004816260

NM_022124.6(CDH23):c.1595C>T (p.Thr532Met)

SNV
Germline

Chr10:71677536

Conflicting classifications of pathogenicity

Usher syndrome type 1D
Condition: not provided
not specified
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA240778

rs_201297042

9 SubmittersRCV000291141 RCV000724233 RCV000220758 RCV000396155 RCV001271846 RCV004816267

NM_000260.4(MYO7A):c.2025C>T (p.Arg675=)

SNV
Germline

Chr11:77174845

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1B

Criteria Provided
Conflicting Classifications

CA240821

rs_797044658

3 SubmittersRCV000175132 RCV001276684

NM_022124.6(CDH23):c.1803C>G (p.Val601=)

SNV
Germline

Chr10:71679437

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Usher syndrome type 1
CDH23-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA240955

rs_201024982

6 SubmittersRCV000216164 RCV000344596 RCV000406438 RCV001275931 RCV004528932 RCV000724492

NM_206933.4(USH2A):c.3489C>T (p.Asp1163=)

SNV
Germline

Chr1:216199949

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA240980

rs_139156019

3 SubmittersRCV000175255 RCV001100642 RCV001100643

NM_000322.5(PRPH2):c.725A>G (p.Glu242Gly)

SNV
Germline

Chr6:42704468

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome
Stargardt disease
PRPH2-related disorder

Criteria Provided
Conflicting Classifications

CA241332

rs_542296728

6 SubmittersRCV000175581 RCV003389460 RCV001250337 RCV001463523

NM_032119.4(ADGRV1):c.4168A>G (p.Asn1390Asp)

SNV
Germline

Chr5:90653742

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA241989

rs_794727329

5 SubmittersRCV000176120 RCV001156788 RCV005318340

NM_001384140.1(PCDH15):c.2619A>G (p.Glu873=)

SNV
Germline

Chr10:54020324

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1F

Criteria Provided
Conflicting Classifications

CA241991

rs_150784450

4 SubmittersRCV000176122 RCV001274796

NM_032119.4(ADGRV1):c.4666G>A (p.Glu1556Lys)

SNV
Germline

Chr5:90658192

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2C

Criteria Provided
Conflicting Classifications

CA242100

rs_200955930

9 SubmittersRCV000176233 RCV000724689 RCV001151342

NM_206933.4(USH2A):c.4796G>A (p.Gly1599Asp)

SNV
Germline

Chr1:216089102

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Usher syndrome type 2A
USH2A-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA242379

rs_148153079

8 SubmittersRCV000176439 RCV001000728 RCV001273051 RCV004537398 RCV004816279

NM_206933.4(USH2A):c.5167+1G>T

SNV
Germline

Chr1:216084697

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA275134

rs_794727408

3 SubmittersRCV000176600 RCV003445606

NM_206933.4(USH2A):c.5265C>T (p.Phe1755=)

SNV
Germline

Chr1:216083489

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A
not specified

Criteria Provided
Conflicting Classifications

CA242728

rs_147371835

7 SubmittersRCV000176700 RCV001273049 RCV004689654

NM_000260.4(MYO7A):c.39C>A (p.Asp13Glu)

SNV
Germline

Chr11:77142729

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1B

Criteria Provided
Conflicting Classifications

CA243131

rs_199989979

4 SubmittersRCV000177023 RCV001278603

NM_032119.4(ADGRV1):c.267C>T (p.Ala89=)

SNV
Germline

Chr5:90617863

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2C

Criteria Provided
Conflicting Classifications

CA243557

rs_759771981

3 SubmittersRCV000177385 RCV001152781

NM_206933.4(USH2A):c.6601C>T (p.Gln2201Ter)

SNV
Germline

Chr1:215998943

Pathogenic/Likely pathogenic

Condition: not provided
not specified
Retinal dystrophy
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA275221

rs_794727579

7 SubmittersRCV000177821 RCV001002426 RCV001075614 RCV001826903 RCV003454452

NM_000260.4(MYO7A):c.4757A>G (p.Asn1586Ser)

SNV
Germline

Chr11:77199723

Conflicting classifications of pathogenicity

not specified
MYO7A-related disorder
Condition: not provided
Inborn genetic diseases
Usher syndrome type 1B

Criteria Provided
Conflicting Classifications

CA244758

rs_201251963

7 SubmittersRCV000177824 RCV004539661 RCV000724089 RCV004649085 RCV001272798

NM_000260.4(MYO7A):c.5494C>T (p.Arg1832Trp)

SNV
Germline

Chr11:77205475

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1B
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA245510

rs_748080151

6 SubmittersRCV000214220 RCV000724417 RCV001832023 RCV000667801 RCV005384665

NM_206933.4(USH2A):c.7595-3C>G

SNV
Germline

Chr1:215889057

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy
Retinitis pigmentosa 39
Usher syndrome
USH2A-related disorder
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA275270

rs_201657446

13 SubmittersRCV000178475 RCV000669197 RCV001075871 RCV003445607 RCV000504696 RCV004537466 RCV001542728

NM_000260.4(MYO7A):c.5968C>T (p.Gln1990Ter)

SNV
Germline

Chr11:77208720

Pathogenic

Condition: not provided
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2

Criteria Provided
Multiple Submitters
No Conflicts

CA278748

rs_773844428

3 SubmittersRCV000178544 RCV000667070

NM_022124.6(CDH23):c.5722G>A (p.Val1908Ile)

SNV
Germline

Chr10:71785640

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA245698

rs_368828743

5 SubmittersRCV000178556 RCV000724090 RCV001102563 RCV001102564 RCV001274895

NM_206933.4(USH2A):c.8682-9A>G

SNV
Germline

Chr1:215867179

Pathogenic

Condition: not provided
Usher syndrome
Retinitis pigmentosa 39
Retinal dystrophy
Usher syndrome type 2A
Retinitis pigmentosa
USH2A-related disorder

Reviewed By Expert Panel

CA275277

rs_372347027

15 SubmittersRCV000255827 RCV000710348 RCV000666303 RCV001074617 RCV001842795 RCV001723753 RCV004537468

NM_206933.4(USH2A):c.9286G>A (p.Val3096Met)

SNV
Germline

Chr1:215838076

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A
Usher syndrome

Criteria Provided
Conflicting Classifications

CA245826

rs_147267500

5 SubmittersRCV000178642 RCV001835708 RCV003389461

NM_032119.4(ADGRV1):c.10342G>A (p.Val3448Met)

SNV
Germline

Chr5:90728849

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2

Criteria Provided
Conflicting Classifications

CA245870

rs_199715642

3 SubmittersRCV000178696 RCV005361077

NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr)

SNV
Germline

Chr1:215790168

Pathogenic/Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa
Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Retinal dystrophy
Usher syndrome
USH2A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA275315

rs_148660051

28 SubmittersRCV000179099 RCV000190637 RCV000505000 RCV000515419 RCV000482080 RCV001073681 RCV001174974 RCV004537478

NM_206933.4(USH2A):c.10341C>T (p.Ala3447=)

SNV
Germline

Chr1:215786716

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA246349

rs_372015149

4 SubmittersRCV000179116 RCV000825849 RCV001276949

NM_032119.4(ADGRV1):c.11761G>A (p.Ala3921Thr)

SNV
Germline

Chr5:90756982

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA246474

rs_200576500

5 SubmittersRCV000179197 RCV001153105 RCV004609317

NM_032119.4(ADGRV1):c.12208G>A (p.Val4070Ile)

SNV
Germline

Chr5:90763392

Conflicting classifications of pathogenicity

Condition: not provided
Hearing impairment
Usher syndrome type 2

Criteria Provided
Conflicting Classifications

CA246506

rs_200943280

5 SubmittersRCV000179229 RCV001375298 RCV005361080

NM_153676.4(USH1C):c.513C>T (p.Pro171=)

SNV
Germline

Chr11:17527024

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1C

Criteria Provided
Conflicting Classifications

CA246704

rs_199739341

3 SubmittersRCV000179454 RCV001276295

NM_032119.4(ADGRV1):c.12349C>T (p.Arg4117Cys)

SNV
Germline

Chr5:90774249

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Febrile seizures, familial, 4
Usher syndrome type 2C
Condition: not provided
ADGRV1-related disorder
Inborn genetic diseases
Usher syndrome type 2

Criteria Provided
Conflicting Classifications

CA246872

rs_138908576

10 SubmittersRCV000765851 RCV001155719 RCV000710427 RCV004553013 RCV004609318 RCV005361082

NM_206933.4(USH2A):c.13478G>A (p.Arg4493His)

SNV
Germline

Chr1:215674433

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Retinal dystrophy
Usher syndrome type 2A
USH2A-related disorder

Criteria Provided
Conflicting Classifications

CA246929

rs_138879998

9 SubmittersRCV000216357 RCV000879539 RCV001073767 RCV001449650 RCV004537493

NM_206933.4(USH2A):c.13316C>T (p.Thr4439Ile)

SNV
Germline

Chr1:215674595

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa
Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Retinal dystrophy
Usher syndrome
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA275369

rs_753330544

15 SubmittersRCV000179630 RCV000504835 RCV000666708 RCV000724329 RCV001074360 RCV001449693 RCV003454469

NM_022124.6(CDH23):c.9524G>A (p.Arg3175His)

SNV
Germline

Chr10:71812781

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Pituitary adenoma 5, multiple types
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 12
not specified
Pituitary adenoma 5, multiple types

Criteria Provided
Conflicting Classifications

CA246988

rs_140884994

9 SubmittersRCV000179680 RCV000624879 RCV000763668 RCV001276932 RCV001331235 RCV002509282 RCV003474936

NM_032119.4(ADGRV1):c.14005T>C (p.Phe4669Leu)

SNV
Germline

Chr5:90789813

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA246998

rs_199792315

4 SubmittersRCV000179692 RCV001155820 RCV002517755

NM_002109.6(HARS1):c.694C>T (p.Arg232Cys)

SNV
Germline

Chr5:140677690

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 3B
not specified

Criteria Provided
Conflicting Classifications

CA247145

rs_186526524

6 SubmittersRCV000179843 RCV000556160 RCV004020158

NM_015404.4(WHRN):c.1417-1G>A

SNV
Germline

Chr9:114423524

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive nonsyndromic hearing loss 31
Usher syndrome type 2D

Criteria Provided
Multiple Submitters
No Conflicts

CA275406

rs_779760634

3 SubmittersRCV000179947 RCV005042392

NM_022124.6(CDH23):c.10021C>T (p.Arg3341Cys)

SNV
Germline

Chr10:71815234

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1
not specified
Inborn genetic diseases
Retinal dystrophy
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Pituitary adenoma 5, multiple types

Criteria Provided
Conflicting Classifications

CA247413

rs_370074117

10 SubmittersRCV000585427 RCV001826921 RCV001449745 RCV002516808 RCV004816304 RCV002485179

NM_022124.6(CDH23):c.10036G>C (p.Glu3346Gln)

SNV
Germline

Chr10:71815249

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
CDH23-related disorder

Criteria Provided
Conflicting Classifications

CA247415

rs_562525508

5 SubmittersRCV000180037 RCV001833093 RCV000844911 RCV004537499

NM_032119.4(ADGRV1):c.15145G>A (p.Ala5049Thr)

SNV
Germline

Chr5:90810405

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2C
Febrile seizures, familial, 4

Criteria Provided
Conflicting Classifications

CA247447

rs_376376418

4 SubmittersRCV000180061 RCV000724399 RCV002478599

NM_032119.4(ADGRV1):c.16331C>A (p.Thr5444Lys)

SNV
Germline

Chr5:90823559

Conflicting classifications of pathogenicity

Condition: not provided
Febrile seizures, familial, 4
Usher syndrome type 2C
not specified
ADGRV1-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA247452

rs_370906851

9 SubmittersRCV000180070 RCV000765859 RCV002509284 RCV004553020 RCV004816305

NM_206933.4(USH2A):c.3367T>C (p.Tyr1123His)

SNV
Germline

Chr1:216200071

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA353786

rs_794729204

2 SubmittersRCV003727639 RCV005406981

NM_206933.4(USH2A):c.4405C>T (p.Gln1469Ter)

SNV
Germline

Chr1:216175474

Pathogenic

Usher syndrome type 2A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA276026

rs_797045113

3 SubmittersRCV000190638 RCV001852532

NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys)

SNV
Germline

Chr1:215786715

Pathogenic/Likely pathogenic

Retinitis pigmentosa 39
Condition: not provided
Retinitis pigmentosa
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA276181

rs_368049814

16 SubmittersRCV000191142 RCV000484923 RCV000504830 RCV000675180 RCV001002723 RCV001073310 RCV001804928

NM_206933.4(USH2A):c.6670G>T (p.Gly2224Cys)

SNV
Germline

Chr1:215993155

Conflicting classifications of pathogenicity

Retinitis pigmentosa 39
Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
not specified
USH2A-related disorder
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA276179

rs_149553844

16 SubmittersRCV000191140 RCV000359124 RCV000504652 RCV001073314 RCV003155115 RCV004530089 RCV000765068 RCV001002722

NM_206933.4(USH2A):c.9827C>G (p.Ser3276Ter)

SNV
Germline

Chr1:215799038

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA279037

rs_863224941

4 SubmittersRCV000200078 RCV001388624 RCV004816341

NM_001384140.1(PCDH15):c.400C>T (p.Arg134Ter)

SNV
Germline

Chr10:54369194

Pathogenic

Usher syndrome type 1F
Condition: not provided
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 23

Criteria Provided
Multiple Submitters
No Conflicts

CA10575816

rs_137853003

7 SubmittersRCV000240654 RCV001381511 RCV003333743 RCV003474975

NM_153676.4(USH1C):c.7C>T (p.Arg3Ter)

SNV
Germline

Chr11:17544301

Pathogenic

Usher syndrome type 1C

No Assertion Criteria Provided

CA10575817

rs_876657624

1 SubmittersRCV000240666

NM_206933.4(USH2A):c.4474G>T (p.Glu1492Ter)

SNV
Germline

Chr1:216175405

Pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA354065

rs_869312179

4 SubmittersRCV000210331 RCV001542731 RCV002515580

NM_032119.4(ADGRV1):c.1239-8C>G

SNV
Germline

Chr5:90628554

Likely pathogenic

Usher syndrome type 2C

No Assertion Criteria Provided

CA353600

rs_869312178

1 SubmittersRCV000210295

NM_001384140.1(PCDH15):c.2971C>T (p.Arg991Ter)

SNV
Germline

Chr10:53961790

Pathogenic

Usher syndrome type 1D
Usher syndrome type 1F
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 23

Criteria Provided
Multiple Submitters
No Conflicts

CA351436

rs_754391973

5 SubmittersRCV000210315 RCV000781698 RCV001386497 RCV003474992

NM_000260.4(MYO7A):c.4115T>G (p.Val1372Gly)

SNV
Germline

Chr11:77192241

Likely pathogenic

Usher syndrome
Usher syndrome type 1
Retinal dystrophy
Condition: not provided

Reviewed By Expert Panel

CA353603

rs_869312181

3 SubmittersRCV001171542 RCV000210299 RCV000225646 RCV002515581

NM_206933.4(USH2A):c.10999A>C (p.Thr3667Pro)

SNV
Germline

Chr1:215766729

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Retinal dystrophy
Usher syndrome

Criteria Provided
Conflicting Classifications

CA1393854

rs_150822759

8 SubmittersRCV002515601 RCV000490445 RCV000505039 RCV002503836 RCV003454559 RCV003888648 RCV005406952

NM_206933.4(USH2A):c.7000A>G (p.Asn2334Asp)

SNV
Germline

Chr1:215965437

Conflicting classifications of pathogenicity

Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1394970

rs_201281141

5 SubmittersRCV000490448 RCV000665617 RCV002517445 RCV002282046

NM_032119.4(ADGRV1):c.14119G>T (p.Asp4707Tyr)

SNV
Germline

Chr5:90790948

Likely pathogenic

Usher syndrome type 1

No Assertion Criteria Provided

CA16044156

rs_1057519383

1 SubmittersRCV000213866

NM_206933.4(USH2A):c.14902G>A (p.Asp4968Asn)

SNV
Germline

Chr1:215640624

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1392895

rs_764124390

3 SubmittersRCV000218549 RCV000668291 RCV001034435

NM_206933.4(USH2A):c.14191G>A (p.Gly4731Arg)

SNV
Germline

Chr1:215650744

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome type 2A
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1393098

rs_148674752

7 SubmittersRCV000221554 RCV000763827 RCV001272936 RCV001422550 RCV004965333

NM_206933.4(USH2A):c.12700A>C (p.Thr4234Pro)

SNV
Germline

Chr1:215675211

Conflicting classifications of pathogenicity

Rare genetic deafness
Usher syndrome
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA10576374

rs_577938494

3 SubmittersRCV000221320 RCV001376369

NM_206933.4(USH2A):c.12823T>A (p.Ser4275Thr)

SNV
Germline

Chr1:215675088

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2A
USH2A-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1393401

rs_138607917

12 SubmittersRCV000215653 RCV000726657 RCV001272948 RCV004732793 RCV004816373

NM_206933.4(USH2A):c.12241C>T (p.Arg4081Trp)

SNV
Germline

Chr1:215680202

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2A
USH2A-related disorder

Criteria Provided
Conflicting Classifications

CA1393518

rs_144783615

7 SubmittersRCV000217686 RCV000756891 RCV001274936 RCV004732792

NM_206933.4(USH2A):c.11602A>T (p.Met3868Leu)

SNV
Germline

Chr1:215741484

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA1393663

rs_35309576

4 SubmittersRCV000217475 RCV001318894 RCV005396698

NM_206933.4(USH2A):c.10564A>G (p.Arg3522Gly)

SNV
Germline

Chr1:215782759

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome type 2A
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1393991

rs_147374057

6 SubmittersRCV000217733 RCV000763829 RCV001274951 RCV001453428 RCV004816372

NM_206933.4(USH2A):c.9570+1G>A

SNV
Germline

Chr1:215816996

Pathogenic

Rare genetic deafness
Retinal dystrophy
Retinitis pigmentosa 39
Condition: not provided
Usher syndrome type 2A
USH2A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA1394291

rs_760225886

14 SubmittersRCV000217703 RCV001073320 RCV000666079 RCV000808044 RCV001808577 RCV004532752

NM_206933.4(USH2A):c.9110G>A (p.Arg3037His)

SNV
Germline

Chr1:215844442

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2A
USH2A-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1394400

rs_533700989

9 SubmittersRCV000218151 RCV000766324 RCV001276961 RCV004541321 RCV004816361

NM_206933.4(USH2A):c.8740C>T (p.Arg2914Ter)

SNV
Germline

Chr1:215867112

Pathogenic/Likely pathogenic

Rare genetic deafness
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1394520

rs_766590491

12 SubmittersRCV000213731 RCV000666615 RCV001273711 RCV001075409 RCV001091129 RCV005008155

NM_206933.4(USH2A):c.8681+1G>A

SNV
Germline

Chr1:215877757

Pathogenic/Likely pathogenic

Rare genetic deafness
Usher syndrome
Retinitis pigmentosa 39
Condition: not provided
Usher syndrome
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA10576378

rs_876657733

7 SubmittersRCV000222048 RCV000673469 RCV003688833 RCV003226253 RCV003445710 RCV005008154

NM_206933.4(USH2A):c.7494T>A (p.Ser2498Arg)

SNV
Germline

Chr1:215900175

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome type 2A
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1394821

rs_760977747

6 SubmittersRCV000217075 RCV000666814 RCV001271980 RCV001812236 RCV002517521

NM_206933.4(USH2A):c.7038C>T (p.His2346=)

SNV
Germline

Chr1:215965399

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA1394963

rs_145718407

5 SubmittersRCV000213559 RCV000725927 RCV001274245

NM_206933.4(USH2A):c.6565A>G (p.Ile2189Val)

SNV
Germline

Chr1:215998979

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome type 2A
Condition: not provided
USH2A-related disorder

Criteria Provided
Conflicting Classifications

CA1395103

rs_542406401

5 SubmittersRCV000216840 RCV000667038 RCV001271995 RCV001495426 RCV004532749

NM_206933.4(USH2A):c.6364G>T (p.Ala2122Ser)

SNV
Germline

Chr1:216000524

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2A
Inborn genetic diseases
USH2A-related disorder

Criteria Provided
Conflicting Classifications

CA1395161

rs_142786231

8 SubmittersRCV000220285 RCV000724908 RCV001273038 RCV004020605 RCV004532748

NM_206933.4(USH2A):c.5776+1G>A

SNV
Germline

Chr1:216073096

Pathogenic

Rare genetic deafness
Usher syndrome type 2A
Usher syndrome
Usher syndrome type 2
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
Autosomal recessive retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA10576384

rs_876657731

22 SubmittersRCV000213465 RCV001002706 RCV001375185 RCV001003271 RCV002500705 RCV001542730 RCV001723796 RCV000255459 RCV001074367 RCV001257907

NM_206933.4(USH2A):c.2167+11C>T

SNV
Germline

Chr1:216250892

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 2A
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1396294

rs_139647897

3 SubmittersRCV000221775 RCV001101009 RCV001101010 RCV001468097

NM_206933.4(USH2A):c.1000C>T (p.Arg334Trp)

SNV
Germline

Chr1:216325448

Pathogenic/Likely pathogenic

Rare genetic deafness
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2
Condition: not provided
Usher syndrome type 2A
Retinal dystrophy
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1396625

rs_397517963

11 SubmittersRCV000213203 RCV000668930 RCV001003287 RCV000822071 RCV001273812 RCV001074876 RCV003454598

NM_206933.4(USH2A):c.486-1G>C

SNV
Germline

Chr1:216418680

Pathogenic

Rare genetic deafness
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA10576390

rs_876657730

7 SubmittersRCV000220465 RCV000578546 RCV000667749 RCV001097550

NM_181458.4(PAX3):c.1003C>T (p.Pro335Ser)

SNV
Germline

Chr2:222220310

Conflicting classifications of pathogenicity

Craniofacial-deafness-hand syndrome
Waardenburg syndrome
not specified
Condition: not provided
Usher syndrome

Criteria Provided
Conflicting Classifications

CA2135519

rs_151199924

4 SubmittersRCV000329028 RCV000383564 RCV000222451 RCV000915585 RCV003389463

NM_174878.3(CLRN1):c.226T>C (p.Leu76=)

SNV
Germline

Chr3:150972483

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 3

Criteria Provided
Conflicting Classifications

CA2666188

rs_139829306

5 SubmittersRCV000220367 RCV000726594 RCV001275853

NM_032119.4(ADGRV1):c.7129C>T (p.Arg2377Ter)

SNV
Germline

Chr5:90692782

Pathogenic/Likely pathogenic

Rare genetic deafness
Condition: not provided
Usher syndrome type 2C
Febrile seizures, familial, 4

Criteria Provided
Multiple Submitters
No Conflicts

CA3339967

rs_758718347

4 SubmittersRCV000214702 RCV003556278 RCV005031789

NM_032119.4(ADGRV1):c.9181A>G (p.Ile3061Val)

SNV
Germline

Chr5:90712425

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3340453

rs_759038879

3 SubmittersRCV000215611 RCV001155534 RCV001242790

NM_032119.4(ADGRV1):c.12128T>C (p.Ile4043Thr)

SNV
Germline

Chr5:90763312

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2C
Febrile seizures, familial, 4
Usher syndrome type 2C

Criteria Provided
Conflicting Classifications

CA3341161

rs_375632680

6 SubmittersRCV000213261 RCV000710425 RCV000765849 RCV001153110

NM_032119.4(ADGRV1):c.12350G>A (p.Arg4117His)

SNV
Germline

Chr5:90774250

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2C
Inborn genetic diseases
ADGRV1-related disorder

Criteria Provided
Conflicting Classifications

CA3341222

rs_202067248

6 SubmittersRCV000221729 RCV000733207 RCV001155720 RCV004020591 RCV004737338

NM_032119.4(ADGRV1):c.14303C>T (p.Ser4768Leu)

SNV
Germline

Chr5:90791132

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 2C
Febrile seizures, familial, 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3341702

rs_200130204

3 SubmittersRCV000222284 RCV000765856 RCV003542291

NM_032119.4(ADGRV1):c.14432C>A (p.Pro4811Gln)

SNV
Germline

Chr5:90791261

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2C
Inborn genetic diseases
Usher syndrome type 2

Criteria Provided
Conflicting Classifications

CA3341726

rs_201747452

11 SubmittersRCV000214817 RCV000726662 RCV001152053 RCV002517552 RCV005361238

NM_032119.4(ADGRV1):c.16439G>A (p.Ser5480Asn)

SNV
Germline

Chr5:90829014

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3342157

rs_772117132

3 SubmittersRCV000222063 RCV001152165 RCV002517553

NM_032119.4(ADGRV1):c.16640G>A (p.Arg5547His)

SNV
Germline

Chr5:90840606

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Meniere disease
Usher syndrome type 2C

Criteria Provided
Conflicting Classifications

CA3342213

rs_200907244

6 SubmittersRCV000215082 RCV000726656 RCV001797069 RCV004821278

NM_004568.6(SERPINB6):c.314C>A (p.Ser105Tyr)

SNV
Germline

Chr6:2954708

Conflicting classifications of pathogenicity

not specified
Usher syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3617574

rs_148530934

7 SubmittersRCV000223127 RCV001375306 RCV001547089

NM_015404.4(WHRN):c.2322C>T (p.Ser774=)

SNV
Germline

Chr9:114403992

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 31
Condition: not provided
Usher syndrome type 2D

Criteria Provided
Conflicting Classifications

CA5205668

rs_55966714

6 SubmittersRCV000222880 RCV000325777 RCV000973188 RCV000364172

NM_015404.4(WHRN):c.1887G>A (p.Pro629=)

SNV
Germline

Chr9:114406704

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 31
Usher syndrome type 2D
Condition: not provided
WHRN-related disorder

Criteria Provided
Conflicting Classifications

CA5205788

rs_143443833

6 SubmittersRCV000219020 RCV000321890 RCV000360251 RCV000965116 RCV003937823

NM_015404.4(WHRN):c.1716C>T (p.Thr572=)

SNV
Germline

Chr9:114406875

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 31
Usher syndrome type 2D

Criteria Provided
Conflicting Classifications

CA5205825

rs_760471578

4 SubmittersRCV000219079 RCV000937866 RCV001167380 RCV001167381

NM_033056.4(PCDH15):c.5435C>T (p.Pro1812Leu)

SNV
Germline

Chr10:53822291

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1
PCDH15-related disorder

Criteria Provided
Conflicting Classifications

CA5505035

rs_139668636

6 SubmittersRCV000216469 RCV000724949 RCV001105922 RCV004530281

NM_001384140.1(PCDH15):c.3358C>T (p.Arg1120Ter)

SNV
Germline

Chr10:53938830

Pathogenic

Rare genetic deafness
Condition: not provided
Usher syndrome type 1F
Autosomal recessive nonsyndromic hearing loss 23
Autosomal recessive nonsyndromic hearing loss 23
Usher syndrome type 1D
Usher syndrome type 1F
PCDH15-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA10576793

rs_773404494

7 SubmittersRCV000223562 RCV000797689 RCV001833187 RCV003474996 RCV005044438 RCV004734863

NM_022124.6(CDH23):c.67+8C>T

SNV
Germline

Chr10:71439906

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 12
Condition: not provided
Usher syndrome type 1D
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA5543270

rs_186548927

4 SubmittersRCV000219868 RCV001102958 RCV000898831 RCV001102959 RCV001833180

NM_022124.6(CDH23):c.380A>G (p.Asp127Gly)

SNV
Germline

Chr10:71511163

Likely pathogenic

Rare genetic deafness
Usher syndrome
Pituitary adenoma 5, multiple types
Autosomal recessive nonsyndromic hearing loss 12

Reviewed By Expert Panel

CA10576804

rs_876657754

4 SubmittersRCV000213965 RCV000710339 RCV003474999 RCV003155129

NM_022124.6(CDH23):c.2711C>T (p.Pro904Leu)

SNV
Germline

Chr10:71702672

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Condition: not provided
Usher syndrome type 1
Inborn genetic diseases
CDH23-related disorder

Criteria Provided
Conflicting Classifications

CA5544299

rs_199894395

8 SubmittersRCV000221903 RCV000309502 RCV000403602 RCV001245326 RCV001275944 RCV002519603 RCV004529365

NM_022124.6(CDH23):c.3431-6A>T

SNV
Germline

Chr10:71725366

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1
Cone-rod dystrophy

Criteria Provided
Conflicting Classifications

CA5544730

rs_377614198

5 SubmittersRCV000221627 RCV000727019 RCV001272886 RCV005625454

NM_022124.6(CDH23):c.5442C>T (p.Ile1814=)

SNV
Germline

Chr10:71784360

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Condition: not provided
Usher syndrome type 1
CDH23-related disorder

Criteria Provided
Conflicting Classifications

CA5545754

rs_373768157

5 SubmittersRCV000223381 RCV000326886 RCV000381411 RCV000954709 RCV001833179 RCV004529366

NM_022124.6(CDH23):c.5871C>G (p.Pro1957=)

SNV
Germline

Chr10:71788990

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5545911

rs_368122233

8 SubmittersRCV000221794 RCV001104485 RCV001104486 RCV000961168

NM_022124.6(CDH23):c.6138C>T (p.Ile2046=)

SNV
Germline

Chr10:71791220

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 12
not specified
Usher syndrome type 1D
Condition: not provided
CDH23-related disorder

Criteria Provided
Conflicting Classifications

CA5546009

rs_568741210

3 SubmittersRCV000394377 RCV000223100 RCV000359192 RCV000940784 RCV004529367

NM_022124.6(CDH23):c.6654C>A (p.Asp2218Glu)

SNV
Germline

Chr10:71793582

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 12
Pituitary adenoma 5, multiple types
Usher syndrome type 1D

Criteria Provided
Conflicting Classifications

CA5546141

rs_537236734

5 SubmittersRCV000222742 RCV000657978 RCV001275578 RCV002494566

NM_022124.6(CDH23):c.7903G>T (p.Val2635Phe)

SNV
Germline

Chr10:71805836

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 12
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 12
Pituitary adenoma 5, multiple types
Usher syndrome type 1D
Hearing loss, autosomal recessive

Criteria Provided
Conflicting Classifications

CA5546477

rs_763721044

5 SubmittersRCV000216327 RCV000225060 RCV001853435 RCV005044439 RCV004719035

NM_022124.6(CDH23):c.9238G>A (p.Ala3080Thr)

SNV
Germline

Chr10:71811550

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA5546937

rs_369395479

8 SubmittersRCV000223358 RCV000911027 RCV001103167 RCV001103166 RCV001828054

NM_022124.6(CDH23):c.9511-7T>C

SNV
Germline

Chr10:71812761

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12

Criteria Provided
Conflicting Classifications

CA5547118

rs_531195164

4 SubmittersRCV000217984 RCV000896733 RCV001108437 RCV001108438

NM_153676.4(USH1C):c.2124T>C (p.Ser708=)

SNV
Germline

Chr11:17505839

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1C
Autosomal recessive nonsyndromic hearing loss 18A

Criteria Provided
Conflicting Classifications

CA5904355

rs_369021714

6 SubmittersRCV000216768 RCV000725257 RCV000665700

NM_153676.4(USH1C):c.921G>A (p.Ala307=)

SNV
Germline

Chr11:17522882

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1C
Condition: not provided
USH1C-related disorder

Criteria Provided
Conflicting Classifications

CA5904791

rs_778447994

5 SubmittersRCV000217016 RCV000362464 RCV000921188 RCV003937847

NM_000260.4(MYO7A):c.3702C>G (p.Thr1234=)

SNV
Germline

Chr11:77190091

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11
Inborn genetic diseases
MYO7A-related disorder

Criteria Provided
Conflicting Classifications

CA6198175

rs_77299211

5 SubmittersRCV000220518 RCV000879349 RCV001113008 RCV001113009 RCV001114379 RCV004020596 RCV004530306

NM_000260.4(MYO7A):c.5264C>T (p.Ala1755Val)

SNV
Germline

Chr11:77203155

Conflicting classifications of pathogenicity

not specified
Condition: not provided
MYO7A-related disorder
Usher syndrome type 1B

Criteria Provided
Conflicting Classifications

CA6198660

rs_574917232

5 SubmittersRCV000220543 RCV001566962 RCV004532761 RCV001828080

NM_000260.4(MYO7A):c.6062A>G (p.Lys2021Arg)

SNV
Germline

Chr11:77211162

Likely pathogenic

Rare genetic deafness
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Usher syndrome type 1B
Usher syndrome type 1
Condition: not provided

Reviewed By Expert Panel

CA10576905

rs_876657655

7 SubmittersRCV000223094 RCV000675133 RCV001275529 RCV001449942 RCV003126609

NM_000260.4(MYO7A):c.1368C>T (p.Phe456=)

SNV
Germline

Chr11:77162144

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6197484

rs_559209306

6 SubmittersRCV000222635 RCV000664870 RCV001110521 RCV001476961 RCV001109740 RCV001109741 RCV004020595

NM_000260.4(MYO7A):c.2181T>C (p.Phe727=)

SNV
Germline

Chr11:77175458

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2

Criteria Provided
Conflicting Classifications

CA6197731

rs_373656667

5 SubmittersRCV000219453 RCV000941652 RCV001112679 RCV001110702 RCV001110703

NM_000260.4(MYO7A):c.3375+14C>A

SNV
Germline

Chr11:77183171

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6198037

rs_782500012

3 SubmittersRCV000216118 RCV001114284 RCV001114285 RCV001114283 RCV002057121

NM_000260.4(MYO7A):c.1619C>A (p.Pro540His)

SNV
Germline

Chr11:77162917

Conflicting classifications of pathogenicity

not specified
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
Usher syndrome type 1B
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6197533

rs_782607566

9 SubmittersRCV000222836 RCV000308007 RCV000675049 RCV000394833 RCV000344299 RCV001272494 RCV001853425 RCV004955336

NM_000260.4(MYO7A):c.2904G>A (p.Glu968=)

SNV
Germline

Chr11:77181589

Pathogenic/Likely pathogenic

Rare genetic deafness
Usher syndrome type 1
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2

Criteria Provided
Multiple Submitters
No Conflicts

CA6197949

rs_111033233

4 SubmittersRCV000215887 RCV000984198 RCV002517524 RCV000984287 RCV005008152

NM_000260.4(MYO7A):c.2115C>A (p.Cys705Ter)

SNV
Germline

Chr11:77175392

Pathogenic

Rare genetic deafness
Autosomal recessive nonsyndromic hearing loss 2
Condition: not provided
Usher syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA6197712

rs_782255281

4 SubmittersRCV000220369 RCV000770844 RCV003556279 RCV005252821

NM_000260.4(MYO7A):c.1117C>T (p.Arg373Cys)

SNV
Germline

Chr11:77160199

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 2
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
not specified
Condition: not provided
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Usher syndrome

Criteria Provided
Conflicting Classifications

CA10577210

rs_868979094

8 SubmittersRCV000454150 RCV000675097 RCV000223066 RCV002510821 RCV005003562 RCV004586632

NM_000260.4(MYO7A):c.1138G>A (p.Glu380Lys)

SNV
Germline

Chr11:77160220

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA10577211

rs_876657913

2 SubmittersRCV000215457 RCV005255575

NM_000260.4(MYO7A):c.1288C>T (p.Arg430Cys)

SNV
Germline

Chr11:77161060

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11
Condition: not provided
Usher syndrome type 1B
Inborn genetic diseases
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA6197444

rs_201839693

9 SubmittersRCV000218429 RCV000358625 RCV000303792 RCV000405741 RCV000725835 RCV001274698 RCV004020628 RCV004816370

NM_000260.4(MYO7A):c.2006G>A (p.Arg669Gln)

SNV
Germline

Chr11:77174826

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided
Usher syndrome type 1B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6197663

rs_201178011

7 SubmittersRCV000217051 RCV000665596 RCV000726877 RCV001833212 RCV002519642

NM_000260.4(MYO7A):c.2308G>A (p.Ala770Thr)

SNV
Germline

Chr11:77179070

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1B
Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA6197804

rs_375253473

6 SubmittersRCV000756410 RCV001835732 RCV002503858

NM_000260.4(MYO7A):c.2506C>T (p.Arg836Cys)

SNV
Germline

Chr11:77179873

Conflicting classifications of pathogenicity

Usher syndrome type 1B
not specified
Condition: not provided
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA6197855

rs_375510570

9 SubmittersRCV001276692 RCV000222966 RCV000901706 RCV001112773 RCV001112774 RCV001112775

NM_000260.4(MYO7A):c.2798G>A (p.Arg933His)

SNV
Germline

Chr11:77181483

Conflicting classifications of pathogenicity

not specified
Autosomal dominant nonsyndromic hearing loss 11
Condition: not provided
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1B
Hearing impairment
MYO7A-related disorder

Criteria Provided
Conflicting Classifications

CA6197936

rs_201489714

12 SubmittersRCV000216662 RCV001112846 RCV000488266 RCV001112847 RCV001112848 RCV001276696 RCV001375364 RCV004734865

NM_000260.4(MYO7A):c.3283G>A (p.Glu1095Lys)

SNV
Germline

Chr11:77182598

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1
Retinitis pigmentosa
Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1B
Pendred syndrome

Criteria Provided
Conflicting Classifications

CA6198019

rs_199810429

11 SubmittersRCV000220951 RCV000585568 RCV000337813 RCV000787855 RCV000390552 RCV000299195 RCV001276699 RCV001375348

NM_000260.4(MYO7A):c.4066A>T (p.Ser1356Cys)

SNV
Germline

Chr11:77192192

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1B
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA6198306

rs_201195495

7 SubmittersRCV000224963 RCV001271756 RCV004020716 RCV004701298

NM_206933.4(USH2A):c.3368A>G (p.Tyr1123Cys)

SNV
Germline

Chr1:216200070

Pathogenic/Likely pathogenic

Usher syndrome
Condition: not provided
Retinal dystrophy
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1396001

rs_775177930

6 SubmittersRCV002298551 RCV001857783 RCV001073837 RCV000986539 RCV003445719

NM_000260.4(MYO7A):c.1969C>T (p.Arg657Trp)

SNV
Germline

Chr11:77174789

Pathogenic/Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 2
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
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16616838

rs_878853236

5 SubmittersRCV000674391 RCV000763276 RCV001004800 RCV001854837

NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys)

SNV
Germline

Chr1:215728383

Pathogenic

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome
Usher syndrome type 2A
Retinitis pigmentosa
Retinitis pigmentosa 39
USH2A-related disorder

Reviewed By Expert Panel

CA1393629

rs_368675850

15 SubmittersRCV000225477 RCV000482491 RCV000675144 RCV001252669 RCV003137832 RCV003324522 RCV003469118 RCV004532830

NM_206933.4(USH2A):c.11549-1G>A

SNV
Germline

Chr1:215741538

Pathogenic

Retinal dystrophy
Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA10581637

rs_878853407

10 SubmittersRCV000225372 RCV000675178 RCV001197049 RCV001383731 RCV003445715

NM_206933.4(USH2A):c.10996T>G (p.Cys3666Gly)

SNV
Germline

Chr1:215766732

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA1393856

rs_766505885

4 SubmittersRCV000225467 RCV001240530 RCV005437986

NM_206933.4(USH2A):c.10612C>T (p.Arg3538Ter)

SNV
Germline

Chr1:215782170

Pathogenic

Retinal dystrophy
Condition: not provided
Usher syndrome
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA10581638

rs_878853413

6 SubmittersRCV000225445 RCV001383883 RCV003389466 RCV003454686 RCV004567690

NM_206933.4(USH2A):c.6118T>G (p.Cys2040Gly)

SNV
Germline

Chr1:216048579

Conflicting classifications of pathogenicity

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA10581641

rs_878853412

9 SubmittersRCV000225627 RCV000281204 RCV000504766 RCV000669603 RCV001833242 RCV003469119

NM_206933.4(USH2A):c.4251+1G>A

SNV
Germline

Chr1:216196552

Pathogenic/Likely pathogenic

Retinal dystrophy
Usher syndrome type 2A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10581643

rs_878853405

3 SubmittersRCV000225482 RCV004541365 RCV005090155

NM_206933.4(USH2A):c.3158-2A>G

SNV
Germline

Chr1:216207433

Pathogenic

Retinal dystrophy
Usher syndrome type 2A

Criteria Provided
Single Submitter

CA10581645

rs_878853404

1 SubmittersRCV000225664 RCV001002690

NM_206933.4(USH2A):c.2139C>T (p.Gly713=)

SNV
Germline

Chr1:216250931

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1396299

rs_765293412

4 SubmittersRCV000225689 RCV001300492 RCV001833241 RCV002487041

NM_022124.6(CDH23):c.2398-1G>T

SNV
Germline

Chr10:71702021

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Pituitary adenoma 5, multiple types

Criteria Provided
Multiple Submitters
No Conflicts

CA5544221

rs_751788879

4 SubmittersRCV000225441 RCV001227028 RCV005044468

NM_022124.6(CDH23):c.7908C>G (p.Tyr2636Ter)

SNV
Germline

Chr10:71805841

Pathogenic

Retinal dystrophy
Condition: not provided
Pituitary adenoma 5, multiple types
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Pituitary adenoma 5, multiple types

Criteria Provided
Multiple Submitters
No Conflicts

CA10581675

rs_878853337

5 SubmittersRCV000225547 RCV000760510 RCV003475052 RCV005044469

NM_000260.4(MYO7A):c.1976C>A (p.Ser659Ter)

SNV
Germline

Chr11:77174796

Pathogenic

Retinal dystrophy
Usher syndrome type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10581681

rs_878853378

3 SubmittersRCV000225435 RCV000760968 RCV003556288

NM_022124.6(CDH23):c.5985C>T (p.Tyr1995=)

SNV
Germline

Chr10:71790349

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1D
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 12

Criteria Provided
Conflicting Classifications

CA5545953

rs_370762205

6 SubmittersRCV000247067 RCV001107252 RCV000888461 RCV001107253

NM_206933.4(USH2A):c.5836C>T (p.Arg1946Ter)

SNV
Germline

Chr1:216072910

Pathogenic

Condition: not provided
Usher syndrome type 2A
Retinal dystrophy
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1395342

rs_751130485

6 SubmittersRCV000255960 RCV001276244 RCV003888668 RCV003475859

NM_206933.4(USH2A):c.2304C>A (p.Cys768Ter)

SNV
Germline

Chr1:216247090

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA10588282

rs_886039449

6 SubmittersRCV000255405 RCV001074717 RCV001271235 RCV003454778

NM_032119.4(ADGRV1):c.10213C>T (p.Arg3405Ter)

SNV
Germline

Chr5:90728720

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome type 2C
Febrile seizures, familial, 4

Criteria Provided
Multiple Submitters
No Conflicts

CA3340708

rs_763670293

3 SubmittersRCV000255292 RCV005031841

NM_206933.4(USH2A):c.9258+1G>A

SNV
Germline

Chr1:215844293

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1394380

rs_748810737

12 SubmittersRCV000256404 RCV000672669 RCV001074509 RCV001091127 RCV002059062

NM_206933.4(USH2A):c.5516T>A (p.Val1839Glu)

SNV
Germline

Chr1:216078145

Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome
Condition: not provided
Retinal dystrophy

Reviewed By Expert Panel

CA10588918

rs_886039867

8 SubmittersRCV000256390 RCV000678635 RCV001171534 RCV001240204 RCV001075572

NM_032119.4(ADGRV1):c.7606G>T (p.Glu2536Ter)

SNV
Germline

Chr5:90694362

Pathogenic

Usher syndrome type 2C

No Assertion Criteria Provided

CA10588925

rs_886039893

1 SubmittersRCV000256377

NM_032119.4(ADGRV1):c.8295G>T (p.Leu2765Phe)

SNV
Germline

Chr5:90704397

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2C
Febrile seizures, familial, 4

Criteria Provided
Conflicting Classifications

CA3340227

rs_141681122

4 SubmittersRCV000384444 RCV002479998

NM_153676.4(USH1C):c.2443C>T (p.Leu815=)

SNV
Germline

Chr11:17498209

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1C

Criteria Provided
Conflicting Classifications

CA5904161

rs_148477093

4 SubmittersRCV000405725 RCV000724931 RCV001833311

NM_206933.4(USH2A):c.11467G>A (p.Val3823Ile)

SNV
Germline

Chr1:215743258

Conflicting classifications of pathogenicity

not specified
Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
USH2A-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1393701

rs_142481947

8 SubmittersRCV000387630 RCV001073259 RCV000724948 RCV001274939 RCV004535263 RCV002518828

NM_001384140.1(PCDH15):c.1205G>C (p.Gly402Ala)

SNV
Germline

Chr10:54195783

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1D
Usher syndrome type 1F
Autosomal recessive nonsyndromic hearing loss 23
Usher syndrome type 1
Condition: not provided
Usher syndrome type 1F
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA5506466

rs_145017164

9 SubmittersRCV000323966 RCV000763658 RCV001103157 RCV000724967 RCV001526428 RCV004816480

NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys)

SNV
Germline

Chr1:215675337

Likely pathogenic

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
Usher syndrome
Retinitis pigmentosa 39
Usher syndrome type 2A

Reviewed By Expert Panel

CA1393449

rs_750396156

22 SubmittersRCV000498898 RCV000504963 RCV000675149 RCV001075586 RCV001089679 RCV000678644 RCV004786650

NM_000260.4(MYO7A):c.5860C>G (p.Leu1954Val)

SNV
Germline

Chr11:77208433

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1B

Criteria Provided
Conflicting Classifications

CA6198859

rs_948962

4 SubmittersRCV000270823 RCV001277330

NM_032119.4(ADGRV1):c.1411G>C (p.Val471Leu)

SNV
Germline

Chr5:90628734

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2C

Criteria Provided
Conflicting Classifications

CA3338684

rs_190427962

4 SubmittersRCV000403322 RCV001330107

NM_032119.4(ADGRV1):c.5264C>T (p.Ala1755Val)

SNV
Germline

Chr5:90675396

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2C
not specified

Criteria Provided
Conflicting Classifications

CA3339524

rs_185971062

5 SubmittersRCV000276635 RCV001330109 RCV004525916

NM_032119.4(ADGRV1):c.3022+8T>C

SNV
Germline

Chr5:90646099

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2C
ADGRV1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA3339083

rs_375286987

7 SubmittersRCV000365755 RCV001156671 RCV004547675 RCV005434760

NM_032119.4(ADGRV1):c.17758C>A (p.Leu5920Ile)

SNV
Germline

Chr5:90863759

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2C
Febrile seizures, familial, 4
Inborn genetic diseases
ADGRV1-related disorder

Criteria Provided
Conflicting Classifications

CA3342447

rs_202110635

7 SubmittersRCV000371450 RCV000765860 RCV002521901 RCV004737409

NM_000260.4(MYO7A):c.2208G>A (p.Leu736=)

SNV
Germline

Chr11:77177569

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1B
MYO7A-related disorder

Criteria Provided
Conflicting Classifications

CA6197759

rs_373599360

4 SubmittersRCV000281308 RCV001828195 RCV004734926

NM_000260.4(MYO7A):c.5688G>A (p.Gln1896=)

SNV
Germline

Chr11:77206148

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1B

Criteria Provided
Conflicting Classifications

CA6198794

rs_570316231

7 SubmittersRCV000354082 RCV000725341 RCV001112141 RCV001112143 RCV001112142 RCV001833329

NM_206933.4(USH2A):c.15306C>T (p.Ala5102=)

SNV
Germline

Chr1:215629027

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA1392714

rs_149506333

3 SubmittersRCV000387659 RCV001271909

NM_001384140.1(PCDH15):c.4672-1564T>C

SNV
Germline

Chr10:53808694

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1D

Criteria Provided
Conflicting Classifications

CA5504665

rs_193186244

4 SubmittersRCV000285722 RCV001810442

NM_206933.4(USH2A):c.908G>A (p.Arg303His)

SNV
Germline

Chr1:216325540

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39
Retinal dystrophy
Usher syndrome type 2A
Usher syndrome
Hearing impairment
USH2A-related disorder
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA1396646

rs_371777049

18 SubmittersRCV000276147 RCV000666542 RCV001074790 RCV001828199 RCV002229842 RCV000754554 RCV004732821 RCV005008243

NM_001384140.1(PCDH15):c.3009+7G>A

SNV
Germline

Chr10:53961745

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1F

Criteria Provided
Conflicting Classifications

CA5505853

rs_201161336

3 SubmittersRCV000270684 RCV001273391

NM_022124.6(CDH23):c.3852G>A (p.Ser1284=)

SNV
Germline

Chr10:71732123

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12

Criteria Provided
Conflicting Classifications

CA5544856

rs_372172457

4 SubmittersRCV000291847 RCV001103714 RCV001103713

NM_033056.4(PCDH15):c.4719G>A (p.Leu1573=)

SNV
Germline

Chr10:53823007

Conflicting classifications of pathogenicity

Condition: not provided
PCDH15-related disorder
Usher syndrome type 1F

Criteria Provided
Conflicting Classifications

CA5505207

rs_529962978

5 SubmittersRCV000303306 RCV004543047 RCV001833335

NM_032119.4(ADGRV1):c.15169C>T (p.Pro5057Ser)

SNV
Germline

Chr5:90810429

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Febrile seizures, familial, 4
Usher syndrome type 2C
Usher syndrome type 2C
Optic atrophy

Criteria Provided
Conflicting Classifications

CA3341876

rs_183633457

8 SubmittersRCV000377249 RCV000725653 RCV000765858 RCV001153318 RCV004816500

NM_022124.6(CDH23):c.1719C>T (p.Asn573=)

SNV
Germline

Chr10:71677660

Conflicting classifications of pathogenicity

Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Condition: not provided
Usher syndrome type 1
CDH23-related disorder

Criteria Provided
Conflicting Classifications

CA5543934

rs_761913744

4 SubmittersRCV000317344 RCV000262216 RCV000374181 RCV001275929 RCV004529470

NM_206933.4(USH2A):c.1813T>C (p.Cys605Arg)

SNV
Germline

Chr1:216292202

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Usher syndrome

Criteria Provided
Conflicting Classifications

CA10605103

rs_886043096

4 SubmittersRCV000308238 RCV001723872 RCV003323493

NM_032119.4(ADGRV1):c.155G>A (p.Arg52His)

SNV
Germline

Chr5:90614967

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3338396

rs_199798095

4 SubmittersRCV000297704 RCV001731561 RCV004021179

NM_000260.4(MYO7A):c.3297C>T (p.Pro1099=)

SNV
Germline

Chr11:77183079

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Usher syndrome type 1B

Criteria Provided
Conflicting Classifications

CA6198027

rs_367668576

7 SubmittersRCV000323874 RCV000825201 RCV001112923 RCV001112924 RCV001112925 RCV001271743

NM_206933.4(USH2A):c.9008T>C (p.Val3003Ala)

SNV
Germline

Chr1:215845871

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA1394438

rs_138574386

4 SubmittersRCV000265505 RCV001273708

NM_000260.4(MYO7A):c.5227C>A (p.Arg1743=)

SNV
Germline

Chr11:77203118

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1B
MYO7A-related disorder

Criteria Provided
Conflicting Classifications

CA6198650

rs_111033287

6 SubmittersRCV000379856 RCV000725788 RCV001828223 RCV004535359

NM_206933.4(USH2A):c.7541A>G (p.Asn2514Ser)

SNV
Germline

Chr1:215900128

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA1394810

rs_150060240

7 SubmittersRCV000487893 RCV005396887 RCV001196427

NM_206933.4(USH2A):c.14760C>T (p.Ser4920=)

SNV
Germline

Chr1:215647553

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA1392937

rs_778669346

3 SubmittersRCV000311667 RCV001833360

NM_206933.4(USH2A):c.2459A>G (p.Asn820Ser)

SNV
Germline

Chr1:216246935

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Usher syndrome type 2A
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1396227

rs_34447581

6 SubmittersRCV000339482 RCV000371237 RCV000405347 RCV004816503

NM_206933.4(USH2A):c.7475C>T (p.Ser2492Leu)

SNV
Germline

Chr1:215900194

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 39
Usher syndrome type 2A
not specified
Retinal dystrophy
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA1394829

rs_483353056

8 SubmittersRCV000373313 RCV000504866 RCV000670917 RCV000826074 RCV001073464 RCV001274241

NM_001384140.1(PCDH15):c.2908G>A (p.Val970Ile)

SNV
Germline

Chr10:53961853

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1F
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5505878

rs_138338096

5 SubmittersRCV000269198 RCV001828237 RCV002521959

NM_206933.4(USH2A):c.9037G>A (p.Ala3013Thr)

SNV
Germline

Chr1:215845842

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1394432

rs_149813671

4 SubmittersRCV000281270 RCV001276963 RCV002519276

NM_032119.4(ADGRV1):c.5830G>T (p.Asp1944Tyr)

SNV
Germline

Chr5:90683751

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2C

Criteria Provided
Conflicting Classifications

CA3339671

rs_41302834

3 SubmittersRCV000382480 RCV001374879

NM_206933.4(USH2A):c.15520-1G>A

SNV
Germline

Chr1:215625871

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA1392633

rs_767265734

8 SubmittersRCV000281832 RCV001000794 RCV001828242 RCV003463769

NM_032119.4(ADGRV1):c.13153A>G (p.Ile4385Val)

SNV
Germline

Chr5:90781500

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3341450

rs_200584854

4 SubmittersRCV000314800 RCV001151953 RCV002521982

NM_015404.4(WHRN):c.1455G>A (p.Pro485=)

SNV
Germline

Chr9:114423485

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2D
Autosomal recessive nonsyndromic hearing loss 31
not specified

Criteria Provided
Conflicting Classifications

CA5205942

rs_141807746

7 SubmittersRCV000396458 RCV001168768 RCV001168769 RCV001195590

NM_000260.4(MYO7A):c.5169-6C>T

SNV
Germline

Chr11:77203054

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1B

Criteria Provided
Conflicting Classifications

CA6198646

rs_768594224

5 SubmittersRCV000403454 RCV000726176 RCV001111485 RCV001111486 RCV001111487 RCV001272805

NM_001384140.1(PCDH15):c.4320G>A (p.Pro1440=)

SNV
Germline

Chr10:53827440

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1F

Criteria Provided
Conflicting Classifications

CA5505370

rs_12246234

3 SubmittersRCV000346512 RCV001833385

NM_015404.4(WHRN):c.1075G>A (p.Val359Ile)

SNV
Germline

Chr9:114426302

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 31
not specified
Usher syndrome type 2D
Condition: not provided
WHRN-related disorder

Criteria Provided
Conflicting Classifications

CA5206087

rs_147500559

6 SubmittersRCV000271876 RCV000330120 RCV000366983 RCV000880644 RCV003940063

NM_032119.4(ADGRV1):c.8401G>A (p.Gly2801Arg)

SNV
Germline

Chr5:90705414

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2C

Criteria Provided
Conflicting Classifications

CA3340257

rs_760510612

6 SubmittersRCV000584970 RCV004698340

NM_032119.4(ADGRV1):c.17108G>A (p.Arg5703His)

SNV
Germline

Chr5:90848725

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2C
Usher syndrome type 2

Criteria Provided
Conflicting Classifications

CA3342294

rs_201073459

8 SubmittersRCV000710437 RCV001153445 RCV005355610

NM_015404.4(WHRN):c.933A>C (p.Pro311=)

SNV
Germline

Chr9:114466297

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 31
Usher syndrome type 2D
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5206122

rs_569159249

6 SubmittersRCV000398321 RCV001168141 RCV001168142 RCV001610786

NM_206933.4(USH2A):c.14073C>T (p.Asn4691=)

SNV
Germline

Chr1:215671032

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA1393155

rs_370364142

3 SubmittersRCV000395763 RCV001272938

NM_032119.4(ADGRV1):c.17933A>G (p.His5978Arg)

SNV
Germline

Chr5:90965491

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome
Febrile seizures, familial, 4
Usher syndrome type 2C

Criteria Provided
Conflicting Classifications

CA10606456

rs_756460900

4 SubmittersRCV000309426 RCV001731567 RCV005031871

NM_000260.4(MYO7A):c.731G>A (p.Arg244His)

SNV
Germline

Chr11:77157000

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Usher syndrome type 1B

Criteria Provided
Conflicting Classifications

CA6197225

rs_121965081

8 SubmittersRCV000726411 RCV000395205 RCV001828270

NM_001384140.1(PCDH15):c.521A>G (p.Asn174Ser)

SNV
Germline

Chr10:54346438

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1F

Criteria Provided
Conflicting Classifications

CA5506668

rs_145037203

5 SubmittersRCV000282912 RCV001276790

NM_032119.4(ADGRV1):c.4487A>G (p.Tyr1496Cys)

SNV
Germline

Chr5:90658013

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2C
Febrile seizures, familial, 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3339358

rs_376401006

5 SubmittersRCV000302563 RCV000764617 RCV004021309

NM_032119.4(ADGRV1):c.9635T>C (p.Ile3212Thr)

SNV
Germline

Chr5:90720946

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Febrile seizures, familial, 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3340564

rs_199833843

4 SubmittersRCV000765847 RCV000394411

NM_000260.4(MYO7A):c.676G>A (p.Ala226Thr)

SNV
Germline

Chr11:77156945

Conflicting classifications of pathogenicity

Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6197213

rs_201753022

7 SubmittersRCV001109572 RCV001109573 RCV001109571 RCV000726586

NM_206933.4(USH2A):c.3177G>A (p.Pro1059=)

SNV
Germline

Chr1:216207412

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA1396059

rs_767648070

2 SubmittersRCV000328804 RCV001495406 RCV000383428

NM_206933.4(USH2A):c.3157+12C>T

SNV
Germline

Chr1:216217375

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Usher syndrome type 2A
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1396084

rs_199853422

3 SubmittersRCV000288109 RCV000326688 RCV004800378 RCV001509796

NM_206933.4(USH2A):c.1539C>T (p.Thr513=)

SNV
Germline

Chr1:216323485

Conflicting classifications of pathogenicity

Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA1396495

rs_199939890

4 SubmittersRCV000278735 RCV001172230 RCV000375855

NM_206933.4(USH2A):c.486-15C>T

SNV
Germline

Chr1:216418694

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Usher syndrome type 2A
USH2A-related disorder
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1396772

rs_114194722

7 SubmittersRCV000292417 RCV000389034 RCV004537640 RCV000606338 RCV001520242

NM_206933.4(USH2A):c.3532C>G (p.Pro1178Ala)

SNV
Germline

Chr1:216199906

Conflicting classifications of pathogenicity

Retinitis pigmentosa
not specified
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA1395972

rs_372081834

12 SubmittersRCV000356379 RCV000611914 RCV000943840 RCV000394505 RCV001578966

NM_206933.4(USH2A):c.3320T>G (p.Ile1107Ser)

SNV
Germline

Chr1:216200118

Conflicting classifications of pathogenicity

Usher syndrome type 2A
Retinitis pigmentosa
Condition: not provided
USH2A-related disorder
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA1396011

rs_146372677

6 SubmittersRCV000277125 RCV000332273 RCV000908710 RCV004537639 RCV005396920

NM_206933.4(USH2A):c.4445C>T (p.Thr1482Ile)

SNV
Germline

Chr1:216175434

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Usher syndrome type 2A
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1395708

rs_200790812

7 SubmittersRCV000265612 RCV000378867 RCV000840094 RCV004021420

NM_206933.4(USH2A):c.4412G>C (p.Arg1471Thr)

SNV
Germline

Chr1:216175467

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Usher syndrome type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1395711

rs_369357349

2 SubmittersRCV000280684 RCV000335820 RCV001470224

NM_206933.4(USH2A):c.3342C>T (p.Asp1114=)

SNV
Germline

Chr1:216200096

Conflicting classifications of pathogenicity

Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA1396007

rs_755765979

2 SubmittersRCV000298283 RCV002059427 RCV000353037

NM_206933.4(USH2A):c.849-4A>G

SNV
Germline

Chr1:216325603

Conflicting classifications of pathogenicity

Usher syndrome type 2A
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10609873

rs_765189933

2 SubmittersRCV000261571 RCV000358742 RCV001443214

NM_206933.4(USH2A):c.126C>T (p.Asn42=)

SNV
Germline

Chr1:216422211

Conflicting classifications of pathogenicity

Usher syndrome type 2A
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1396852

rs_774473277

2 SubmittersRCV000402756 RCV000285688 RCV001430541

NM_174878.3(CLRN1):c.*1039A>T

SNV
Germline

Chr3:150926897

Conflicting classifications of pathogenicity

Usher syndrome type 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2665884

rs_200446881

2 SubmittersRCV000337397 RCV001559345

NM_174878.3(CLRN1):c.*1038G>A

SNV
Germline

Chr3:150926898

Conflicting classifications of pathogenicity

Usher syndrome type 3
Usher syndrome type 3A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2665886

rs_201534956

4 SubmittersRCV000278638 RCV001526749 RCV003221942

NM_001195794.1(CLRN1):c.-289G>A

SNV
Germline

Chr3:150972997

Conflicting classifications of pathogenicity

Usher syndrome type 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2666269

rs_55842922

2 SubmittersRCV000310548 RCV001577695

NM_000440.3(PDE6A):c.274G>A (p.Asp92Asn)

SNV
Germline

Chr5:149944400

Conflicting classifications of pathogenicity

Retinitis pigmentosa 43
Retinitis pigmentosa
Condition: not provided
Usher syndrome

Criteria Provided
Conflicting Classifications

CA3505097

rs_199924410

4 SubmittersRCV002470846 RCV000401940 RCV001417212 RCV003389471

NM_000440.3(PDE6A):c.299G>A (p.Arg100Gln)

SNV
Germline

Chr5:149944375

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Usher syndrome
Retinitis pigmentosa 43

Criteria Provided
Conflicting Classifications

CA3505085

rs_199738915

4 SubmittersRCV000353155 RCV001487723 RCV003389470 RCV002470845

NM_002109.6(HARS1):c.382C>T (p.Arg128Cys)

SNV
Germline

Chr5:140679802

Conflicting classifications of pathogenicity

Usher syndrome type 3B
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3444129

rs_138582560

7 SubmittersRCV000540562 RCV001567367 RCV004021987

NM_002109.6(HARS1):c.103G>A (p.Val35Met)

SNV
Germline

Chr5:140690932

Conflicting classifications of pathogenicity

Usher syndrome type 3B
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3444202

rs_144588417

3 SubmittersRCV000650142 RCV004021988 RCV001584068

NM_015404.4(WHRN):c.1626+8T>G

SNV
Germline

Chr9:114423306

Conflicting classifications of pathogenicity

Usher syndrome type 2D
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 31

Criteria Provided
Conflicting Classifications

CA5205888

rs_547616329

2 SubmittersRCV000287518 RCV001502135 RCV000400920

NM_015404.4(WHRN):c.1161G>A (p.Ser387=)

SNV
Germline

Chr9:114426216

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 31
Usher syndrome type 2D
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5206066

rs_201105262

2 SubmittersRCV000296955 RCV000335512 RCV000934435

NM_015404.4(WHRN):c.690C>T (p.Thr230=)

SNV
Germline

Chr9:114478700

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 31
Usher syndrome type 2D
Condition: not provided
not specified
WHRN-related disorder

Criteria Provided
Conflicting Classifications

CA10626284

rs_779112096

4 SubmittersRCV000319764 RCV000374401 RCV003766097 RCV000825271 RCV004758006

NM_001384140.1(PCDH15):c.2709A>G (p.Gly903=)

SNV
Germline

Chr10:54020234

Conflicting classifications of pathogenicity

Usher syndrome type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10628707

rs_886047064

2 SubmittersRCV000271218 RCV001502851

NM_022124.6(CDH23):c.588G>A (p.Glu196=)

SNV
Germline

Chr10:71566900

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Condition: not provided
CDH23-related disorder

Criteria Provided
Conflicting Classifications

CA10628799

rs_886047129

3 SubmittersRCV000321350 RCV000378275 RCV001452208 RCV004529494

NM_022124.6(CDH23):c.960C>T (p.Asn320=)

SNV
Germline

Chr10:71617219

Conflicting classifications of pathogenicity

Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Condition: not provided
CDH23-related disorder

Criteria Provided
Conflicting Classifications

CA5543609

rs_756644736

2 SubmittersRCV000347147 RCV000385459 RCV001496809 RCV004529496

NM_022124.6(CDH23):c.2953+10C>T

SNV
Germline

Chr10:71705140

Conflicting classifications of pathogenicity

Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5544385

rs_781572688

2 SubmittersRCV000277784 RCV000370037 RCV000945149

NM_022124.6(CDH23):c.4179C>T (p.Asp1393=)

SNV
Germline

Chr10:71734314

Conflicting classifications of pathogenicity

Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Condition: not provided
CDH23-related disorder

Criteria Provided
Conflicting Classifications

CA10628819

rs_571668370

2 SubmittersRCV000332278 RCV000389279 RCV000903491 RCV004529512

NM_022124.6(CDH23):c.6429G>A (p.Thr2143=)

SNV
Germline

Chr10:71793357

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
not specified
Condition: not provided
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA5546078

rs_142788731

6 SubmittersRCV000280841 RCV000331450 RCV000600911 RCV000730499 RCV001828306

NM_022124.6(CDH23):c.7482+12C>A

SNV
Germline

Chr10:71800767

Conflicting classifications of pathogenicity

Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
CDH23-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5546359

rs_370000472

2 SubmittersRCV000298796 RCV000402836 RCV004529523 RCV003698760

NM_022124.6(CDH23):c.7551C>T (p.Ser2517=)

SNV
Germline

Chr10:71802966

Conflicting classifications of pathogenicity

Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Condition: not provided
CDH23-related disorder

Criteria Provided
Conflicting Classifications

CA10628832

rs_886047140

2 SubmittersRCV000311746 RCV000337327 RCV002520620 RCV004529524

NM_022124.6(CDH23):c.7999G>C (p.Asp2667His)

SNV
Germline

Chr10:71805932

Conflicting classifications of pathogenicity

Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Condition: not provided
CDH23-related disorder

Criteria Provided
Conflicting Classifications

CA5546501

rs_200251748

4 SubmittersRCV000280892 RCV000372850 RCV000911402 RCV004529525

NM_153676.4(USH1C):c.759+10G>T

SNV
Germline

Chr11:17524441

Conflicting classifications of pathogenicity

Usher syndrome type 1C
Condition: not provided
USH1C-related disorder

Criteria Provided
Conflicting Classifications

CA5904904

rs_368528034

4 SubmittersRCV000361591 RCV000927201 RCV003967870

NM_000260.4(MYO7A):c.2057G>A (p.Arg686His)

SNV
Germline

Chr11:77174877

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1
Condition: not provided
Meniere disease
Usher syndrome type 1B
MYO7A-related disorder
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2

Criteria Provided
Conflicting Classifications

CA6197677

rs_781991817

7 SubmittersRCV000295997 RCV000344917 RCV000380863 RCV001048255 RCV001526683 RCV001833447 RCV004725160 RCV005396937

NM_000260.4(MYO7A):c.2507G>A (p.Arg836His)

SNV
Germline

Chr11:77179874

Conflicting classifications of pathogenicity

Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11
Condition: not provided
Meniere disease
Usher syndrome type 1B
MYO7A-related disorder

Criteria Provided
Conflicting Classifications

CA6197856

rs_782179888

7 SubmittersRCV000276334 RCV000333807 RCV000363893 RCV001207535 RCV001526684 RCV001833449 RCV004734969

NM_000260.4(MYO7A):c.3662C>G (p.Pro1221Arg)

SNV
Germline

Chr11:77190051

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Condition: not provided
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2

Criteria Provided
Conflicting Classifications

CA6198162

rs_780594308

4 SubmittersRCV000270717 RCV000329095 RCV000381527 RCV002056247 RCV005396938

NM_000260.4(MYO7A):c.4039C>T (p.Arg1347Cys)

SNV
Germline

Chr11:77192165

Conflicting classifications of pathogenicity

Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6198300

rs_111534474

5 SubmittersRCV000277269 RCV000330024 RCV000369577 RCV002487363 RCV003317189 RCV001859830

NM_000260.4(MYO7A):c.5265G>A (p.Ala1755=)

SNV
Germline

Chr11:77203156

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6198661

rs_773557376

2 SubmittersRCV000310716 RCV000346611 RCV000406574 RCV001444129

NM_000260.4(MYO7A):c.5661G>A (p.Pro1887=)

SNV
Germline

Chr11:77206121

Conflicting classifications of pathogenicity

Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2
Condition: not provided
Autosomal dominant nonsyndromic hearing loss 11

Criteria Provided
Conflicting Classifications

CA6198788

rs_375627342

2 SubmittersRCV000335764 RCV000300737 RCV000943569 RCV000404938

NM_033056.4(PCDH15):c.4749G>A (p.Arg1583=)

SNV
Germline

Chr10:53822977

Conflicting classifications of pathogenicity

Usher syndrome type 1
not specified
Usher syndrome type 1F
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5505199

rs_767811568

4 SubmittersRCV000309831 RCV000825808 RCV001272404 RCV001458803

NM_001384140.1(PCDH15):c.3501+7G>T

SNV
Germline

Chr10:53903236

Conflicting classifications of pathogenicity

Usher syndrome type 1
Condition: not provided
PCDH15-related disorder

Criteria Provided
Conflicting Classifications

CA5505651

rs_756402556

3 SubmittersRCV000407974 RCV000944576 RCV004734958

NM_001384140.1(PCDH15):c.3195A>G (p.Gln1065=)

SNV
Germline

Chr10:53940903

Conflicting classifications of pathogenicity

Usher syndrome type 1
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5505778

rs_776720353

3 SubmittersRCV000371325 RCV000604640 RCV000841000

NM_022124.6(CDH23):c.321C>G (p.Val107=)

SNV
Germline

Chr10:71510986

Conflicting classifications of pathogenicity

Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Condition: not provided
CDH23-related disorder

Criteria Provided
Conflicting Classifications

CA5543374

rs_761122371

2 SubmittersRCV000341503 RCV000376196 RCV000944337 RCV004529492

NM_022124.6(CDH23):c.1062C>T (p.Ser354=)

SNV
Germline

Chr10:71617321

Conflicting classifications of pathogenicity

Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Condition: not provided
CDH23-related disorder

Criteria Provided
Conflicting Classifications

CA5543629

rs_775091135

2 SubmittersRCV000315269 RCV000394171 RCV000914144 RCV004529497

NM_022124.6(CDH23):c.2176+12C>T

SNV
Germline

Chr10:71690596

Conflicting classifications of pathogenicity

Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Condition: not provided
CDH23-related disorder

Criteria Provided
Conflicting Classifications

CA5544113

rs_371967419

2 SubmittersRCV000273001 RCV000327893 RCV001476074 RCV004529501

NM_022124.6(CDH23):c.2235C>T (p.Ile745=)

SNV
Germline

Chr10:71694205

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Condition: not provided
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA5544134

rs_368841307

5 SubmittersRCV000269340 RCV000324478 RCV000944688 RCV001828302

NM_022124.6(CDH23):c.3915C>T (p.Asn1305=)

SNV
Germline

Chr10:71732186

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Condition: not provided
CDH23-related disorder

Criteria Provided
Conflicting Classifications

CA5544868

rs_568924674

2 SubmittersRCV000294260 RCV000352687 RCV001425757 RCV004529510

NM_022124.6(CDH23):c.4005C>G (p.Val1335=)

SNV
Germline

Chr10:71732276

Conflicting classifications of pathogenicity

Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
CDH23-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10632016

rs_886047136

2 SubmittersRCV000307044 RCV000346648 RCV004529511 RCV002059557

NM_022124.6(CDH23):c.8309-3C>T

SNV
Germline

Chr10:71807513

Conflicting classifications of pathogenicity

Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Condition: not provided
CDH23-related disorder

Criteria Provided
Conflicting Classifications

CA5546621

rs_371910002

3 SubmittersRCV000352437 RCV000403407 RCV001050510 RCV004529527

NM_022124.6(CDH23):c.8824G>A (p.Asp2942Asn)

SNV
Germline

Chr10:71809921

Conflicting classifications of pathogenicity

Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Condition: not provided
CDH23-related disorder

Criteria Provided
Conflicting Classifications

CA5546760

rs_371286324

3 SubmittersRCV000296684 RCV000388688 RCV000941578 RCV004529530

NM_022124.6(CDH23):c.8979+13C>T

SNV
Germline

Chr10:71810089

Conflicting classifications of pathogenicity

Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10632033

rs_886047142

2 SubmittersRCV000262338 RCV000354723 RCV003765766

NM_015404.4(WHRN):c.*37C>G

SNV
Germline

Chr9:114402717

Conflicting classifications of pathogenicity

Usher syndrome type 2D
Autosomal recessive nonsyndromic hearing loss 31
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5205541

rs_549195233

2 SubmittersRCV000383219 RCV000345020 RCV001533851

NM_015404.4(WHRN):c.1305C>T (p.Asn435=)

SNV
Germline

Chr9:114424445

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 31
Condition: not provided
not specified
Usher syndrome type 2D

Criteria Provided
Conflicting Classifications

CA5205993

rs_150407952

4 SubmittersRCV000283797 RCV000881335 RCV000825692 RCV000385176

NM_015404.4(WHRN):c.549G>A (p.Arg183=)

SNV
Germline

Chr9:114504253

Conflicting classifications of pathogenicity

Usher syndrome type 2D
Autosomal recessive nonsyndromic hearing loss 31
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5206258

rs_147477922

2 SubmittersRCV000285400 RCV000380051 RCV000918490

NM_015404.4(WHRN):c.1227C>T (p.Ala409=)

SNV
Germline

Chr9:114424523

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 31
Condition: not provided
Usher syndrome type 2D

Criteria Provided
Conflicting Classifications

CA5206008

rs_758129253

2 SubmittersRCV000341331 RCV001476609 RCV000398434

NM_153676.4(USH1C):c.2265C>G (p.Leu755=)

SNV
Germline

Chr11:17501497

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1C

Criteria Provided
Conflicting Classifications

CA10634219

rs_151251262

2 SubmittersRCV002056182 RCV000383252

NM_153676.4(USH1C):c.105-4A>G

SNV
Germline

Chr11:17531546

Conflicting classifications of pathogenicity

Usher syndrome type 1C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5905165

rs_201374986

3 SubmittersRCV000299965 RCV001431048

NM_033056.4(PCDH15):c.5566G>A (p.Glu1856Lys)

SNV
Germline

Chr10:53822160

Conflicting classifications of pathogenicity

Usher syndrome type 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5505009

rs_371269732

2 SubmittersRCV000276333 RCV005452978

NM_001384140.1(PCDH15):c.4272A>G (p.Pro1424=)

SNV
Germline

Chr10:53827488

Conflicting classifications of pathogenicity

Usher syndrome type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5505384

rs_759109238

3 SubmittersRCV000317288 RCV000992505

NM_001384140.1(PCDH15):c.3450C>A (p.Ile1150=)

SNV
Germline

Chr10:53903294

Conflicting classifications of pathogenicity

Usher syndrome type 1
Condition: not provided
Usher syndrome type 1F

Criteria Provided
Conflicting Classifications

CA5505665

rs_146374856

5 SubmittersRCV000366826 RCV000963254 RCV001273390

NM_001384140.1(PCDH15):c.2768C>T (p.Pro923Leu)

SNV
Germline

Chr10:53995749

Conflicting classifications of pathogenicity

Usher syndrome type 1
Condition: not provided
PCDH15-related disorder

Criteria Provided
Conflicting Classifications

CA5505926

rs_191577774

3 SubmittersRCV000306542 RCV002059554 RCV004734959

NM_001384140.1(PCDH15):c.2581G>A (p.Val861Met)

SNV
Germline

Chr10:54020362

Conflicting classifications of pathogenicity

Usher syndrome type 1
not specified
Usher syndrome type 1D
Usher syndrome type 1F
Autosomal recessive nonsyndromic hearing loss 23
Hearing impairment
Autosomal recessive nonsyndromic hearing loss 23
Usher syndrome type 1F
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5505978

rs_142512524

9 SubmittersRCV000322580 RCV000614926 RCV000763656 RCV001375215 RCV001578639 RCV001578640 RCV001246481

NM_001384140.1(PCDH15):c.2220+9A>G

SNV
Germline

Chr10:54066748

Conflicting classifications of pathogenicity

Usher syndrome type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10635502

rs_886047065

2 SubmittersRCV000282135 RCV001439631

NM_001384140.1(PCDH15):c.1900G>A (p.Val634Ile)

SNV
Germline

Chr10:54132892

Conflicting classifications of pathogenicity

Usher syndrome type 1
not specified
Condition: not provided
Usher syndrome type 1F
Usher syndrome type 1D
Usher syndrome type 1F
Autosomal recessive nonsyndromic hearing loss 23
Autosomal recessive nonsyndromic hearing loss 23
PCDH15-related disorder

Criteria Provided
Conflicting Classifications

CA5506236

rs_146199636

10 SubmittersRCV000302330 RCV000825082 RCV000594545 RCV001275398 RCV000763657 RCV001578793 RCV004734960

NM_022124.6(CDH23):c.-15C>A

SNV
Germline

Chr10:71397309

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
not specified
CDH23-related disorder

Criteria Provided
Conflicting Classifications

CA5543256

rs_760922529

2 SubmittersRCV000362541 RCV000390411 RCV000432888 RCV004529491

NM_022124.6(CDH23):c.2568C>G (p.Ile856Met)

SNV
Germline

Chr10:71702192

Conflicting classifications of pathogenicity

Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
not specified
Condition: not provided
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA5544251

rs_188498736

6 SubmittersRCV000352367 RCV000388322 RCV000603389 RCV000913656 RCV001275942

NM_022124.6(CDH23):c.3186C>A (p.Thr1062=)

SNV
Germline

Chr10:71709177

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
not specified
Usher syndrome type 1
Condition: not provided
CDH23-related disorder

Criteria Provided
Conflicting Classifications

CA5544506

rs_201589645

6 SubmittersRCV000313690 RCV000370779 RCV000604669 RCV001272555 RCV000911401 RCV004529506

NM_022124.6(CDH23):c.3369+12G>A

SNV
Germline

Chr10:71712825

Conflicting classifications of pathogenicity

Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
not specified
Condition: not provided
CDH23-related disorder

Criteria Provided
Conflicting Classifications

CA5544561

rs_187975106

4 SubmittersRCV000311695 RCV000404267 RCV000611678 RCV001403346 RCV004757199

NM_022124.6(CDH23):c.4857C>T (p.His1619=)

SNV
Germline

Chr10:71777691

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Condition: not provided
CDH23-related disorder

Criteria Provided
Conflicting Classifications

CA5545571

rs_369817589

2 SubmittersRCV000287247 RCV000321303 RCV000983656 RCV004529513

NM_022124.6(CDH23):c.4984C>T (p.Leu1662=)

SNV
Germline

Chr10:71777818

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Condition: not provided
CDH23-related disorder

Criteria Provided
Conflicting Classifications

CA10635684

rs_886047139

2 SubmittersRCV000364252 RCV000405794 RCV001427255 RCV004529514

NM_000260.4(MYO7A):c.-211A>G

SNV
Germline

Chr11:77128325

Conflicting classifications of pathogenicity

Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2

Criteria Provided
Conflicting Classifications

CA10635686

rs_41298129

1 SubmittersRCV000260369 RCV000323641 RCV000362086

NM_022124.6(CDH23):c.5037C>T (p.Ile1679=)

SNV
Germline

Chr10:71777871

Conflicting classifications of pathogenicity

Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Condition: not provided
CDH23-related disorder

Criteria Provided
Conflicting Classifications

CA5545609

rs_757049933

2 SubmittersRCV000267155 RCV000361770 RCV000942615 RCV004529515

NM_022124.6(CDH23):c.5228C>A (p.Thr1743Asn)

SNV
Germline

Chr10:71779307

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Condition: not provided
Usher syndrome type 1
Inborn genetic diseases
Pituitary adenoma 5, multiple types

Criteria Provided
Conflicting Classifications

CA5545691

rs_191021194

8 SubmittersRCV000288653 RCV000343595 RCV000594106 RCV001273555 RCV003165814 RCV003475927

NM_022124.6(CDH23):c.5865C>T (p.Asn1955=)

SNV
Germline

Chr10:71788984

Conflicting classifications of pathogenicity

Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10635695

rs_762382800

2 SubmittersRCV000286902 RCV000323372 RCV002056128

NM_000260.4(MYO7A):c.288G>T (p.Thr96=)

SNV
Germline

Chr11:77155909

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10635696

rs_56023295

2 SubmittersRCV000313176 RCV000351609 RCV000394333 RCV002056246

NM_000260.4(MYO7A):c.895G>A (p.Ala299Thr)

SNV
Germline

Chr11:77158322

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6197298

rs_372344870

3 SubmittersRCV000295336 RCV000331580 RCV000380951 RCV001465852

NM_000260.4(MYO7A):c.1242C>T (p.Ile414=)

SNV
Germline

Chr11:77161014

Conflicting classifications of pathogenicity

Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10635697

rs_886048673

2 SubmittersRCV000278740 RCV000343044 RCV000404475 RCV003708512

NM_022124.6(CDH23):c.7362+14G>A

SNV
Germline

Chr10:71799643

Conflicting classifications of pathogenicity

Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Condition: not provided
CDH23-related disorder

Criteria Provided
Conflicting Classifications

CA5546314

rs_78158757

3 SubmittersRCV000292073 RCV000339955 RCV001571668 RCV004529522

NM_000260.4(MYO7A):c.1690+9G>T

SNV
Germline

Chr11:77162997

Conflicting classifications of pathogenicity

Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6197552

rs_371146074

2 SubmittersRCV000263099 RCV000312541 RCV000367245 RCV000907024

NM_000260.4(MYO7A):c.2107G>A (p.Gly703Arg)

SNV
Germline

Chr11:77175384

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Condition: not provided
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2

Criteria Provided
Conflicting Classifications

CA6197708

rs_572300575

3 SubmittersRCV000311742 RCV000350852 RCV000406123 RCV001503720 RCV005003627

NM_022124.6(CDH23):c.8775C>T (p.Pro2925=)

SNV
Germline

Chr10:71809872

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Condition: not provided
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA5546751

rs_766541944

5 SubmittersRCV000292248 RCV000374993 RCV000726895 RCV001276060

NM_000260.4(MYO7A):c.3415G>A (p.Gly1139Ser)

SNV
Germline

Chr11:77184627

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1B
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6198059

rs_200840044

6 SubmittersRCV000271790 RCV000302453 RCV000359563 RCV001828314 RCV001039078 RCV003298369

NM_000260.4(MYO7A):c.5214C>A (p.Ala1738=)

SNV
Germline

Chr11:77203105

Conflicting classifications of pathogenicity

Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10635714

rs_886048681

2 SubmittersRCV000259261 RCV000319067 RCV000374841 RCV002522210

NM_000260.4(MYO7A):c.*442T>C

SNV
Germline

Chr11:77215138

Conflicting classifications of pathogenicity

Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10635720

rs_115238711

2 SubmittersRCV000259693 RCV000317300 RCV000370726 RCV001778900

NM_022124.6(CDH23):c.1168T>C (p.Leu390=)

SNV
Germline

Chr10:71645858

Conflicting classifications of pathogenicity

Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5543724

rs_369803887

2 SubmittersRCV000267939 RCV000323059 RCV000906653

NM_022124.6(CDH23):c.2310C>T (p.Asp770=)

SNV
Germline

Chr10:71695438

Conflicting classifications of pathogenicity

Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Condition: not provided
CDH23-related disorder

Criteria Provided
Conflicting Classifications

CA10636081

rs_886047131

2 SubmittersRCV000313765 RCV000394288 RCV001432529 RCV004529502

NM_022124.6(CDH23):c.3213G>A (p.Glu1071=)

SNV
Germline

Chr10:71709204

Conflicting classifications of pathogenicity

Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
not specified
Condition: not provided
CDH23-related disorder

Criteria Provided
Conflicting Classifications

CA5544513

rs_140255091

3 SubmittersRCV000330781 RCV000364456 RCV000825120 RCV001431605 RCV004529507

NM_022124.6(CDH23):c.4451C>T (p.Pro1484Leu)

SNV
Germline

Chr10:71739735

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA5545050

rs_371145622

3 SubmittersRCV000297636 RCV000396019 RCV000924141 RCV001195443

NM_022124.6(CDH23):c.5931T>C (p.Pro1977=)

SNV
Germline

Chr10:71790295

Conflicting classifications of pathogenicity

Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
not specified
Condition: not provided
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA5545943

rs_373457993

6 SubmittersRCV000278877 RCV000373401 RCV000443119 RCV000888423 RCV001275567

NM_022124.6(CDH23):c.8931C>T (p.His2977=)

SNV
Germline

Chr10:71810028

Conflicting classifications of pathogenicity

Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Condition: not provided
CDH23-related disorder

Criteria Provided
Conflicting Classifications

CA5546795

rs_781099726

2 SubmittersRCV000297546 RCV000360453 RCV001473848 RCV004529531

NM_022124.6(CDH23):c.9108G>A (p.Glu3036=)

SNV
Germline

Chr10:71811345

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 12
Condition: not provided
Usher syndrome type 1D
CDH23-related disorder

Criteria Provided
Conflicting Classifications

CA5546883

rs_768198017

3 SubmittersRCV000282723 RCV000933441 RCV000407587 RCV004529532

NM_153676.4(USH1C):c.2280+15G>A

SNV
Germline

Chr11:17501467

Conflicting classifications of pathogenicity

Usher syndrome type 1C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10637973

rs_886048059

2 SubmittersRCV000273406 RCV003105862

NM_005709.4(USH1C):c.1220G>A (p.Gly407Glu)

SNV
Germline

Chr11:17517465

Conflicting classifications of pathogenicity

Usher syndrome type 1C
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA5904675

rs_143923730

6 SubmittersRCV000297479 RCV000914270 RCV001700046

NM_153676.4(USH1C):c.789C>G (p.Gly263=)

SNV
Germline

Chr11:17523449

Conflicting classifications of pathogenicity

Usher syndrome type 1C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5904876

rs_376197674

2 SubmittersRCV000346576 RCV002056183

NM_153676.4(USH1C):c.790G>A (p.Val264Ile)

SNV
Germline

Chr11:17523448

Conflicting classifications of pathogenicity

Usher syndrome type 1C
Inborn genetic diseases
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5904875

rs_79875849

5 SubmittersRCV000310482 RCV004021506 RCV000825027 RCV001068380

NM_000260.4(MYO7A):c.549G>A (p.Ser183=)

SNV
Germline

Chr11:77156738

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1
Condition: not provided
Usher syndrome type 1B

Criteria Provided
Conflicting Classifications

CA6197167

rs_188198404

5 SubmittersRCV000288102 RCV000346581 RCV000382415 RCV000902461 RCV001274690

NM_000260.4(MYO7A):c.874C>T (p.Arg292Trp)

SNV
Germline

Chr11:77158301

Conflicting classifications of pathogenicity

Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6197289

rs_782505601

3 SubmittersRCV000271212 RCV000326285 RCV000365761 RCV001243912

NM_000260.4(MYO7A):c.1358G>A (p.Cys453Tyr)

SNV
Germline

Chr11:77162134

Conflicting classifications of pathogenicity

Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Condition: not provided
Usher syndrome type 1B
Inborn genetic diseases
Nonsyndromic genetic hearing loss

Criteria Provided
Conflicting Classifications

CA6197483

rs_202080237

6 SubmittersRCV000274537 RCV000329699 RCV000374942 RCV000940796 RCV001274700 RCV002522208 RCV004786663

NM_000260.4(MYO7A):c.1801G>A (p.Ala601Thr)

SNV
Germline

Chr11:77172751

Conflicting classifications of pathogenicity

Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11
not specified
Condition: not provided
Usher syndrome type 1B
Nonsyndromic genetic hearing loss

Criteria Provided
Conflicting Classifications

CA6197616

rs_782481491

10 SubmittersRCV000259771 RCV000299486 RCV000354619 RCV000825399 RCV001056085 RCV001276679 RCV005355632

NM_000260.4(MYO7A):c.2679C>T (p.Ala893=)

SNV
Germline

Chr11:77180466

Conflicting classifications of pathogenicity

Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6197894

rs_782279442

2 SubmittersRCV000286807 RCV000339449 RCV000378907 RCV001458388

NM_000260.4(MYO7A):c.2697G>A (p.Glu899=)

SNV
Germline

Chr11:77181382

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Condition: not provided
Usher syndrome type 1B

Criteria Provided
Conflicting Classifications

CA6197911

rs_782531164

4 SubmittersRCV000289817 RCV000347141 RCV000403147 RCV000840679 RCV001833450

NM_000260.4(MYO7A):c.3858G>A (p.Ala1286=)

SNV
Germline

Chr11:77190804

Conflicting classifications of pathogenicity

Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
not specified
Condition: not provided
Usher syndrome type 1B
MYO7A-related disorder

Criteria Provided
Conflicting Classifications

CA6198220

rs_372623270

7 SubmittersRCV000305550 RCV000335721 RCV000404678 RCV000608071 RCV000916035 RCV001271752 RCV004544521

NM_000260.4(MYO7A):c.5088G>T (p.Arg1696=)

SNV
Germline

Chr11:77202344

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10639468

rs_886048680

2 SubmittersRCV000305655 RCV000342085 RCV000393098 RCV000983621

NM_000260.4(MYO7A):c.5820A>G (p.Ser1940=)

SNV
Germline

Chr11:77207366

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10639469

rs_886048682

2 SubmittersRCV000293070 RCV000334037 RCV000387359 RCV001499006

NM_000260.4(MYO7A):c.-154G>A

SNV
Germline

Chr11:77128382

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA10640226

rs_545774605

1 SubmittersRCV000301811 RCV000346140 RCV000396989

NM_000260.4(MYO7A):c.160A>G (p.Thr54Ala)

SNV
Germline

Chr11:77147825

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Condition: not provided
Usher syndrome type 1B
Cone-rod dystrophy

Criteria Provided
Conflicting Classifications

CA6197062

rs_369142107

5 SubmittersRCV000298034 RCV000355269 RCV000395630 RCV001059240 RCV001833445 RCV005625531

NM_000260.4(MYO7A):c.186G>A (p.Thr62=)

SNV
Germline

Chr11:77147851

Conflicting classifications of pathogenicity

Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided
Usher syndrome type 1B

Criteria Provided
Conflicting Classifications

CA6197068

rs_368267301

4 SubmittersRCV000311072 RCV000368170 RCV000395629 RCV000977630 RCV001275886

NM_000260.4(MYO7A):c.562C>G (p.Gln188Glu)

SNV
Germline

Chr11:77156751

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1B
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6197170

rs_572959359

5 SubmittersRCV000352175 RCV001833446 RCV000312582 RCV000406232 RCV000606419 RCV001245525

NM_000260.4(MYO7A):c.1344-7C>G

SNV
Germline

Chr11:77162113

Conflicting classifications of pathogenicity

Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10640231

rs_886048674

2 SubmittersRCV000269702 RCV000334180 RCV000369160 RCV003718168

NM_000260.4(MYO7A):c.2411G>A (p.Arg804Gln)

SNV
Germline

Chr11:77179778

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Condition: not provided
Usher syndrome type 1B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6197838

rs_561347333

4 SubmittersRCV000280481 RCV000335541 RCV000374878 RCV001240935 RCV001833448 RCV004955411

NM_000260.4(MYO7A):c.5640C>T (p.Asn1880=)

SNV
Germline

Chr11:77206100

Conflicting classifications of pathogenicity

Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11
Condition: not provided
Usher syndrome type 1B
MYO7A-related disorder

Criteria Provided
Conflicting Classifications

CA6198782

rs_140664109

4 SubmittersRCV000295020 RCV000348795 RCV000391723 RCV000944350 RCV001272814 RCV004734970

NM_000260.4(MYO7A):c.5667G>C (p.Leu1889=)

SNV
Germline

Chr11:77206127

Conflicting classifications of pathogenicity

Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10640241

rs_747516555

2 SubmittersRCV000302211 RCV000355606 RCV000403039 RCV002056248

NM_173477.5(USH1G):c.563G>T (p.Arg188Leu)

SNV
Germline

Chr17:74920273

Conflicting classifications of pathogenicity

Usher syndrome type 1G
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8754045

rs_201123735

4 SubmittersRCV000399627 RCV001473710 RCV002523010

NM_173477.5(USH1G):c.*49C>T

SNV
Germline

Chr17:74918024

Conflicting classifications of pathogenicity

Usher syndrome type 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8753840

rs_199648830

2 SubmittersRCV000394761 RCV001556098

NM_174878.3(CLRN1):c.619C>T (p.Arg207Ter)

SNV
Germline

Chr3:150928016

Pathogenic

Usher syndrome type 3A
Condition: not provided
Retinitis pigmentosa 61
Retinitis pigmentosa 61
Usher syndrome type 3A

Criteria Provided
Multiple Submitters
No Conflicts

CA2666003

rs_373208120

5 SubmittersRCV001273480 RCV001065581 RCV003470355 RCV005004142

NM_174878.3(CLRN1):c.13C>T (p.Gln5Ter)

SNV
Germline

Chr3:150972696

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome type 3A

Criteria Provided
Multiple Submitters
No Conflicts

CA16040903

rs_1057517224

3 SubmittersRCV002523872 RCV005430336

NM_033056.4(PCDH15):c.4368-2A>T

SNV
Germline

Chr10:53823360

Pathogenic/Likely pathogenic

Usher syndrome type 1F
Condition: not provided
Usher syndrome type 1D
Usher syndrome type 1F
Autosomal recessive nonsyndromic hearing loss 23

Criteria Provided
Multiple Submitters
No Conflicts

CA16041354

rs_989521806

3 SubmittersRCV000410459 RCV003679000 RCV005049536

NM_001384140.1(PCDH15):c.4367+1G>A

SNV
Unknown

Chr10:53827392

Likely pathogenic

Usher syndrome type 1F
Usher syndrome type 1D
Usher syndrome type 1F
Autosomal recessive nonsyndromic hearing loss 23

Criteria Provided
Single Submitter

CA16041356

rs_1057516613

2 SubmittersRCV000410301 RCV002505994

NM_001384140.1(PCDH15):c.4227T>A (p.Cys1409Ter)

SNV
Germline

Chr10:53827533

Pathogenic

Usher syndrome type 1F
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 23

Criteria Provided
Single Submitter

CA16041358

rs_1057516472

3 SubmittersRCV000409923 RCV002524620 RCV003475946

NM_001384140.1(PCDH15):c.3983+1G>T

SNV
Germline

Chr10:53840319

Pathogenic/Likely pathogenic

Usher syndrome type 1F
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA5505501

rs_758921360

5 SubmittersRCV000410951 RCV001268370 RCV004816632

NM_001384140.1(PCDH15):c.2785C>T (p.Arg929Ter)

SNV
Germline

Chr10:53995732

Pathogenic

Autosomal recessive nonsyndromic hearing loss 23
Usher syndrome type 1F
Condition: not provided
Usher syndrome type 1D
Usher syndrome type 1F
Autosomal recessive nonsyndromic hearing loss 23

Criteria Provided
Multiple Submitters
No Conflicts

CA16041367

rs_1057516342

7 SubmittersRCV000770852 RCV000412338 RCV000811416 RCV005049535

NM_001384140.1(PCDH15):c.2624C>A (p.Ser875Ter)

SNV
Germline

Chr10:54020319

Pathogenic/Likely pathogenic

Usher syndrome type 1F
Condition: not provided
Usher syndrome type 1D
Usher syndrome type 1F
Autosomal recessive nonsyndromic hearing loss 23

Criteria Provided
Multiple Submitters
No Conflicts

CA16041368

rs_201328768

3 SubmittersRCV000410835 RCV001865259 RCV005044607

NM_001384140.1(PCDH15):c.1915C>T (p.Gln639Ter)

SNV
Germline

Chr10:54132877

Pathogenic/Likely pathogenic

Usher syndrome type 1F
Condition: not provided
Usher syndrome type 1D
Usher syndrome type 1F
Autosomal recessive nonsyndromic hearing loss 23

Criteria Provided
Multiple Submitters
No Conflicts

CA16041369

rs_138983888

3 SubmittersRCV000412275 RCV001383685 RCV005049538

NM_001384140.1(PCDH15):c.1806T>G (p.Tyr602Ter)

SNV
Germline

Chr10:54132986

Pathogenic/Likely pathogenic

Usher syndrome type 1F
Condition: not provided
Usher syndrome type 1D
Usher syndrome type 1F
Autosomal recessive nonsyndromic hearing loss 23

Criteria Provided
Multiple Submitters
No Conflicts

CA16041371

rs_1057517443

3 SubmittersRCV000410816 RCV003669146 RCV005044617

NM_001384140.1(PCDH15):c.1785-2A>C

SNV
Unknown

Chr10:54133009

Likely pathogenic

Usher syndrome type 1F

No Assertion Criteria Provided

CA16041372

rs_1057516474

1 SubmittersRCV000410583

NM_001384140.1(PCDH15):c.1737C>G (p.Tyr579Ter)

SNV
Germline

Chr10:54153147

Pathogenic/Likely pathogenic

Usher syndrome type 1F
Condition: not provided
Retinal dystrophy
Autosomal recessive nonsyndromic hearing loss 23
PCDH15-related disorder
Childhood onset hearing loss

Criteria Provided
Multiple Submitters
No Conflicts

CA5506283

rs_1057517251

9 SubmittersRCV000410287 RCV001050534 RCV001073718 RCV003475969 RCV004530499 RCV001328031

NM_001384140.1(PCDH15):c.1305+1G>A

SNV
Germline

Chr10:54195682

Likely pathogenic

Usher syndrome type 1F
Condition: not provided

Criteria Provided
Single Submitter

CA16041375

rs_758947077

2 SubmittersRCV000411068 RCV003565419

NM_001384140.1(PCDH15):c.1006C>T (p.Arg336Ter)

SNV
Germline

Chr10:54214028

Pathogenic

Usher syndrome type 1F
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA5506515

rs_370261904

5 SubmittersRCV000410351 RCV001386990

NM_001384140.1(PCDH15):c.594+1G>T

SNV
Unknown

Chr10:54346364

Likely pathogenic

Usher syndrome type 1F

No Assertion Criteria Provided

CA16041377

rs_1057516470

1 SubmittersRCV000411154

NM_001384140.1(PCDH15):c.157+1G>C

SNV
Unknown

Chr10:54527811

Likely pathogenic

Usher syndrome type 1F

No Assertion Criteria Provided

CA16041381

rs_1057516770

1 SubmittersRCV000411565

NM_153676.4(USH1C):c.496+1G>A

SNV
Germline

Chr11:17527222

Pathogenic

Usher syndrome type 1C
Autosomal recessive nonsyndromic hearing loss 18A
Autosomal recessive nonsyndromic hearing loss 18A
Usher syndrome type 1C
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA5905031

rs_138138689

12 SubmittersRCV000411458 RCV003328125 RCV005044619 RCV001240003 RCV001266797

NM_153676.4(USH1C):c.463C>T (p.Arg155Ter)

SNV
Germline

Chr11:17527256

Pathogenic

Autosomal recessive nonsyndromic hearing loss 18A
Usher syndrome type 1C
Hearing loss, autosomal recessive
Condition: not provided

Criteria Provided
Single Submitter

CA5905040

rs_377145777

4 SubmittersRCV000409966 RCV000412375 RCV001291494 RCV001865277

NM_000260.4(MYO7A):c.2323C>T (p.Gln775Ter)

SNV
Germline

Chr11:77179085

Pathogenic

Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2
Condition: not provided
Rare genetic deafness
Usher syndrome type 1B
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11

Criteria Provided
Multiple Submitters
No Conflicts

CA6197809

rs_201892914

6 SubmittersRCV000410053 RCV000411572 RCV001383210 RCV000844718 RCV001828377 RCV005010300

NM_000260.4(MYO7A):c.3262C>T (p.Gln1088Ter)

SNV
Germline

Chr11:77182577

Pathogenic

Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11

Criteria Provided
Multiple Submitters
No Conflicts

CA6198014

rs_376535635

5 SubmittersRCV000408981 RCV000410532 RCV001850975 RCV005010299

NM_206933.4(USH2A):c.486-14G>A

SNV
Germline

Chr1:216418693

Pathogenic/Likely pathogenic

Retinitis pigmentosa 39
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA1396771

rs_374536346

11 SubmittersRCV000678652 RCV000414183 RCV000673542 RCV001075754 RCV001828379

NM_032119.4(ADGRV1):c.11410C>T (p.Arg3804Ter)

SNV
Germline

Chr5:90755015

Pathogenic

Condition: not provided
Febrile seizures, familial, 4
Usher syndrome type 2C

Criteria Provided
Multiple Submitters
No Conflicts

CA3340972

rs_767570081

3 SubmittersRCV000413951 RCV005033937

NM_000260.4(MYO7A):c.1555-8C>G

SNV
Germline

Chr11:77162845

Pathogenic

Condition: not provided
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16042773

rs_1057517774

3 SubmittersRCV000413907 RCV000667896

NM_000260.4(MYO7A):c.3724C>T (p.Gln1242Ter)

SNV
Germline

Chr11:77190113

Pathogenic

Condition: not provided
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA16042854

rs_1057517857

5 SubmittersRCV000413055 RCV000670142 RCV000763280 RCV004794388

NM_206933.4(USH2A):c.6722C>A (p.Pro2241His)

SNV
Unknown

Chr1:215993103

Likely pathogenic

Congenital sensorineural hearing impairment
Usher syndrome type 2A

Criteria Provided
Single Submitter

CA16043365

rs_1057518826

1 SubmittersRCV000414770 RCV001199349

NM_000260.4(MYO7A):c.3602G>A (p.Cys1201Tyr)

SNV
Germline

Chr11:77189442

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA16043772

rs_117966637

3 SubmittersRCV000416022 RCV004556783

NM_206933.4(USH2A):c.6883G>A (p.Gly2295Arg)

SNV
Germline

Chr1:215970699

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A
not specified
Retinal dystrophy
USH2A-related disorder
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA1395009

rs_768253909

8 SubmittersRCV000416248 RCV001271992 RCV002488860 RCV000602087 RCV004816648 RCV003330661 RCV003389472

NM_000260.4(MYO7A):c.3723A>T (p.Thr1241=)

SNV
Germline

Chr11:77190112

Conflicting classifications of pathogenicity

Usher syndrome type 1
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11

Criteria Provided
Conflicting Classifications

CA6198177

rs_767426033

3 SubmittersRCV001114380 RCV000416139 RCV001114381 RCV001114382

NM_000260.4(MYO7A):c.5772C>A (p.Ala1924=)

SNV
Germline

Chr11:77207318

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA6198830

rs_749438001

3 SubmittersRCV000416261 RCV001109460 RCV001109459 RCV001109461

NM_206933.4(USH2A):c.11105G>A (p.Trp3702Ter)

SNV
Germline

Chr1:215759786

Pathogenic

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA16043841

rs_1057519193

7 SubmittersRCV001074930 RCV000416074 RCV000671186 RCV003449038 RCV003449039

NM_032119.4(ADGRV1):c.12436C>T (p.Arg4146Ter)

SNV
Germline

Chr5:90776485

Pathogenic/Likely pathogenic

Usher syndrome type 2C
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16044246

rs_369793306

2 SubmittersRCV000416421 RCV003727722

NM_032119.4(ADGRV1):c.13382A>G (p.His4461Arg)

SNV
Germline

Chr5:90783274

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Usher syndrome type 2C
Febrile seizures, familial, 4
Usher syndrome type 2C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3341508

rs_182698253

10 SubmittersRCV000433926 RCV000507824 RCV000765855 RCV001153219 RCV004022266

NM_206933.4(USH2A):c.12284G>A (p.Gly4095Asp)

SNV
Germline

Chr1:215680159

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1393508

rs_759898765

9 SubmittersRCV001271125 RCV000435312 RCV001073281 RCV003449048

NM_206933.4(USH2A):c.1227G>A (p.Trp409Ter)

SNV
Germline

Chr1:216324269

Pathogenic

Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA16603533

rs_397517979

12 SubmittersRCV000438959 RCV000589870 RCV001833524 RCV004816656 RCV000667167

NM_206933.4(USH2A):c.6937G>T (p.Gly2313Cys)

SNV
Germline

Chr1:215970645

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
Retinitis pigmentosa 39
Usher syndrome
Cone-rod dystrophy 3
USH2A-related disorder
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA1394996

rs_199840367

17 SubmittersRCV000432643 RCV001003268 RCV001074794 RCV001095706 RCV002271497 RCV002272234 RCV004533027 RCV005018729 RCV003992295

NM_206933.4(USH2A):c.2994-10T>G

SNV
Germline

Chr1:216217560

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA1396106

rs_748702655

4 SubmittersRCV000427561 RCV001405836 RCV003445987 RCV003445988

NM_022124.6(CDH23):c.7660+1G>T

SNV
Germline

Chr10:71803076

Pathogenic

Condition: not provided
Usher syndrome type 1

Criteria Provided
Single Submitter

CA16605685

rs_1057520662

4 SubmittersRCV000421709 RCV001828406

NM_001384140.1(PCDH15):c.1997+1G>A

SNV
Germline

Chr10:54089983

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome type 1F
Autosomal recessive nonsyndromic hearing loss 23
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA5506182

rs_763797356

7 SubmittersRCV000427347 RCV002307495 RCV003476015 RCV004816657

NM_001384140.1(PCDH15):c.3984-1G>C

SNV
Germline

Chr10:53831534

Pathogenic

Condition: not provided
Usher syndrome type 1F

Criteria Provided
Single Submitter

CA16606664

rs_1057520709

2 SubmittersRCV000433340 RCV000671775

NM_000260.4(MYO7A):c.4018G>A (p.Ala1340Thr)

SNV
Germline

Chr11:77192144

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
not specified
Usher syndrome type 1B
MYO7A-related disorder

Criteria Provided
Conflicting Classifications

CA6198288

rs_376291076

6 SubmittersRCV000421377 RCV000665055 RCV000825981 RCV001273495 RCV004735507

NM_022124.6(CDH23):c.1987-1G>A

SNV
Germline

Chr10:71687646

Pathogenic

Usher syndrome type 1D

No Assertion Criteria Provided

CA16609448

rs_1060499714

1 SubmittersRCV000449554

NM_000260.4(MYO7A):c.849+5G>A

SNV
Germline

Chr11:77157397

Likely pathogenic

Usher syndrome type 1
Condition: not provided

Criteria Provided
Single Submitter

CA16609450

rs_1060499716

2 SubmittersRCV000449574 RCV001291561

NM_032119.4(ADGRV1):c.2898G>A (p.Glu966=)

SNV
Germline

Chr5:90644869

Pathogenic/Likely pathogenic

Usher syndrome type 2C
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16609560

rs_1060499796

3 SubmittersRCV000454318 RCV005407113

NM_032119.4(ADGRV1):c.10426G>A (p.Gly3476Arg)

SNV
Germline

Chr5:90728933

Conflicting classifications of pathogenicity

Usher syndrome type 2C

Criteria Provided
Conflicting Classifications

CA16609561

rs_1060499795

3 SubmittersRCV000454263

NM_022124.6(CDH23):c.5749G>A (p.Glu1917Lys)

SNV
Germline

Chr10:71785667

Pathogenic/Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 12
Pituitary adenoma 5, multiple types
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Pituitary adenoma 5, multiple types

Criteria Provided
Multiple Submitters
No Conflicts

CA16609572

rs_1060499789

5 SubmittersRCV000454137 RCV003476019 RCV002522743 RCV005044653

NM_000260.4(MYO7A):c.6196C>T (p.Gln2066Ter)

SNV
Germline

Chr11:77211296

Pathogenic

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16609577

rs_1060499801

5 SubmittersRCV000454216 RCV001003090 RCV000674950 RCV002522744

NM_000260.4(MYO7A):c.6487G>A (p.Gly2163Ser)

SNV
Germline

Chr11:77213908

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome
Retinal dystrophy
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA6199094

rs_747656448

9 SubmittersRCV000520963 RCV000454276 RCV003235215 RCV004816669 RCV005004160

NM_153676.4(USH1C):c.2380+1G>C

SNV
Germline

Chr11:17501050

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 18A
Usher syndrome type 1C

Criteria Provided
Conflicting Classifications

CA16609745

rs_1060499916

3 SubmittersRCV000455318 RCV000735772 RCV003987539

NM_032119.4(ADGRV1):c.17992G>A (p.Val5998Met)

SNV
Germline

Chr5:90985362

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3342533

rs_557989446

4 SubmittersRCV000477828 RCV001057228 RCV003155199

NM_206933.4(USH2A):c.8167C>T (p.Arg2723Ter)

SNV
Germline

Chr1:215888482

Pathogenic

Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA1394674

rs_200712760

7 SubmittersRCV000485043 RCV000984317 RCV000984316 RCV004816688

NM_206933.4(USH2A):c.7595-2A>G

SNV
Germline

Chr1:215889056

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA16617057

rs_1064795047

4 SubmittersRCV000486199 RCV003464018 RCV003446078

NM_206933.4(USH2A):c.3507G>A (p.Trp1169Ter)

SNV
Germline

Chr1:216199931

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome type 2A
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA16617060

rs_1064793745

4 SubmittersRCV000485380 RCV003449187 RCV000674309 RCV003449188

NM_206933.4(USH2A):c.3408T>A (p.Ser1136Arg)

SNV
Germline

Chr1:216200030

Conflicting classifications of pathogenicity

Condition: not provided
Rare genetic deafness
Usher syndrome

Criteria Provided
Conflicting Classifications

CA16617061

rs_1064793287

5 SubmittersRCV000484519 RCV000599950 RCV005438002

NM_206933.4(USH2A):c.2081G>A (p.Cys694Tyr)

SNV
Germline

Chr1:216250989

Likely pathogenic

Condition: not provided
Usher syndrome
Retinal dystrophy
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Usher syndrome type 2A

Reviewed By Expert Panel

CA1396311

rs_137954284

11 SubmittersRCV000480360 RCV000504759 RCV001074179 RCV003463976 RCV005018793

NM_022124.6(CDH23):c.617A>C (p.Asn206Thr)

SNV
Germline

Chr10:71566929

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA5543487

rs_528880720

3 SubmittersRCV000479707 RCV001828506

NM_022124.6(CDH23):c.772A>G (p.Ile258Val)

SNV
Germline

Chr10:71577932

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA5543550

rs_370782827

4 SubmittersRCV000481002 RCV002526572 RCV001275416

NM_022124.6(CDH23):c.7225-1G>A

SNV
Germline

Chr10:71799491

Likely pathogenic

Condition: not provided
Usher syndrome type 1D

Criteria Provided
Multiple Submitters
No Conflicts

CA16618983

rs_1064795722

2 SubmittersRCV000480087 RCV001839004

NM_000260.4(MYO7A):c.285+1G>C

SNV
Germline

Chr11:77147951

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11

Criteria Provided
Multiple Submitters
No Conflicts

CA16619408

rs_782661097

4 SubmittersRCV000478716 RCV000672808 RCV005010387

NM_000260.4(MYO7A):c.3728C>T (p.Pro1243Leu)

SNV
Germline

Chr11:77190117

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA6198178

rs_750358148

3 SubmittersRCV000482515 RCV000504890

NM_206933.4(USH2A):c.14129A>C (p.Tyr4710Ser)

SNV
Germline

Chr1:215670976

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2

Criteria Provided
Conflicting Classifications

CA16621585

rs_1064797129

2 SubmittersRCV000488312 RCV001199584

NM_206933.4(USH2A):c.13649T>G (p.Val4550Gly)

SNV
Germline

Chr1:215674262

Conflicting classifications of pathogenicity

Condition: not provided
USH2A-related disorder
Usher syndrome

Criteria Provided
Conflicting Classifications

CA1393248

rs_553956503

4 SubmittersRCV000487808 RCV004541531 RCV003389473

NM_206933.4(USH2A):c.12892T>A (p.Tyr4298Asn)

SNV
Germline

Chr1:215675019

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2

Criteria Provided
Conflicting Classifications

CA16621586

rs_1064797130

2 SubmittersRCV000487569 RCV001199575

NM_206933.4(USH2A):c.8522G>A (p.Trp2841Ter)

SNV
Germline

Chr1:215878800

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA16621590

rs_1064797134

8 SubmittersRCV000488256 RCV000667007 RCV003449252 RCV001834579 RCV004816701

NM_206933.4(USH2A):c.8028G>A (p.Pro2676=)

SNV
Germline

Chr1:215888621

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA1394699

rs_766443785

4 SubmittersRCV000487605 RCV001274238

NM_206933.4(USH2A):c.5777-2A>C

SNV
Germline

Chr1:216072971

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome type 2
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA16621592

rs_1064797136

3 SubmittersRCV000487963 RCV001199579 RCV003446084

NM_206933.4(USH2A):c.3221G>A (p.Trp1074Ter)

SNV
Germline

Chr1:216207368

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome type 2
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA16621594

rs_1064797138

3 SubmittersRCV000488319 RCV001199588 RCV003449253

NM_022124.6(CDH23):c.10044C>G (p.Pro3348=)

SNV
Germline

Chr10:71815257

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Usher syndrome type 1
CDH23-related disorder

Criteria Provided
Conflicting Classifications

CA5547255

rs_370568585

6 SubmittersRCV000487839 RCV001103353 RCV001103352 RCV001272668 RCV004757236

NM_032119.4(ADGRV1):c.13358A>G (p.His4453Arg)

SNV
Germline

Chr5:90783250

Conflicting classifications of pathogenicity

Condition: not provided
Febrile seizures, familial, 4
Usher syndrome type 2C
not specified

Criteria Provided
Conflicting Classifications

CA3341506

rs_200212083

4 SubmittersRCV000490059 RCV000765854 RCV001195219

NM_022124.6(CDH23):c.3764A>T (p.Lys1255Met)

SNV
Germline

Chr10:71732035

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5544845

rs_372158876

4 SubmittersRCV000489371 RCV001272565 RCV005532672

NM_206933.4(USH2A):c.11389+3A>T

SNV
Germline

Chr1:215758592

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1393757

rs_753886165

8 SubmittersRCV000515699 RCV001386131 RCV001074399 RCV001376314 RCV005018824

NM_206933.4(USH2A):c.485+3A>T

SNV
Germline

Chr1:216421849

Pathogenic

Usher syndrome type 2A

No Assertion Criteria Provided

CA658655631

rs_1553258031

1 SubmittersRCV000515714

NM_206933.4(USH2A):c.14219C>A (p.Ala4740Asp)

SNV
Germline

Chr1:215650716

Pathogenic

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 39
Retinal dystrophy
Usher syndrome
Retinal degeneration
Retinal dystrophy
Usher syndrome type 2A
Retinitis pigmentosa 39

Reviewed By Expert Panel

CA1393090

rs_539192853

12 SubmittersRCV000492984 RCV000787725 RCV003126756 RCV001073605 RCV001252667 RCV002226464 RCV005018826

NM_206933.4(USH2A):c.10684G>T (p.Glu3562Ter)

SNV
Germline

Chr1:215782098

Pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA1393958

rs_749702843

5 SubmittersRCV003449387 RCV003464064 RCV000494028

NM_206933.4(USH2A):c.9614G>A (p.Arg3205His)

SNV
Germline

Chr1:215813861

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA1394253

rs_200726531

3 SubmittersRCV000498957 RCV001276958

NM_032119.4(ADGRV1):c.12542C>T (p.Pro4181Leu)

SNV
Germline

Chr5:90777919

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2C
not specified

Criteria Provided
Conflicting Classifications

CA3341286

rs_200957385

5 SubmittersRCV000497527 RCV001157421 RCV001195218

NM_000260.4(MYO7A):c.6509C>T (p.Thr2170Ile)

SNV
Germline

Chr11:77213930

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1
Usher syndrome type 1B

Criteria Provided
Conflicting Classifications

CA6199098

rs_544709413

4 SubmittersRCV000497657 RCV001112405 RCV001112406 RCV001112407 RCV001275538

NM_206933.4(USH2A):c.14426C>T (p.Thr4809Ile)

SNV
Germline

Chr1:215648684

Conflicting classifications of pathogenicity

Usher syndrome
Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA1393021

rs_770553471

8 SubmittersRCV000504707 RCV000674502 RCV000657876 RCV003464079

NM_206933.4(USH2A):c.13576C>T (p.Arg4526Ter)

SNV
Germline

Chr1:215674335

Pathogenic

Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA37412317

rs_1003869920

12 SubmittersRCV000504721 RCV000598833 RCV000670712 RCV001829437 RCV001074297

NM_206933.4(USH2A):c.13274C>T (p.Thr4425Met)

SNV
Germline

Chr1:215674637

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Usher syndrome
Retinal dystrophy
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA1393320

rs_201238640

9 SubmittersRCV000504678 RCV000733677 RCV001358731 RCV004817730 RCV003470634

NM_206933.4(USH2A):c.12954C>A (p.Tyr4318Ter)

SNV
Germline

Chr1:215674957

Pathogenic

Usher syndrome
Condition: not provided
Retinitis pigmentosa 39
Retinal dystrophy
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344848080

rs_762159022

8 SubmittersRCV000504779 RCV001380977 RCV001542725 RCV004817729 RCV005018864

NM_206933.4(USH2A):c.12819T>A (p.Tyr4273Ter)

SNV
Germline

Chr1:215675092

Pathogenic

Usher syndrome
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344848937

rs_1362058696

6 SubmittersRCV000505020 RCV000670212 RCV003449422 RCV001865635 RCV003449423

NM_206933.4(USH2A):c.11700C>A (p.Tyr3900Ter)

SNV
Germline

Chr1:215741386

Pathogenic

Retinitis pigmentosa
Condition: not provided
Usher syndrome type 2A

Criteria Provided
Single Submitter

CA344833144

rs_1553257498

3 SubmittersRCV000504698 RCV001857206 RCV005606667

NM_206933.4(USH2A):c.9976C>T (p.Gln3326Ter)

SNV
Germline

Chr1:215790265

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344844828

rs_1288381992

4 SubmittersRCV000505042 RCV000670590 RCV001062508 RCV003449431 RCV003449432

NM_206933.4(USH2A):c.9958G>T (p.Gly3320Cys)

SNV
Germline

Chr1:215798907

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA344848146

rs_1285853856

8 SubmittersRCV000504889 RCV001376751 RCV001834625 RCV001376218 RCV004701572

NM_206933.4(USH2A):c.9882C>G (p.Cys3294Trp)

SNV
Germline

Chr1:215798983

Conflicting classifications of pathogenicity

Retinal dystrophy
Retinitis pigmentosa
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA1394189

rs_749228276

10 SubmittersRCV001075611 RCV000504661 RCV000593818 RCV001810454 RCV001376250 RCV005018865

NM_206933.4(USH2A):c.9571-2A>G

SNV
Germline

Chr1:215813906

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
Usher syndrome
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1394268

rs_751111524

10 SubmittersRCV000505005 RCV001057476 RCV001075684 RCV002231177 RCV000670550 RCV001829438 RCV003446101

NM_206933.4(USH2A):c.8284C>G (p.Pro2762Ala)

SNV
Germline

Chr1:215879038

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Retinitis pigmentosa 39
not specified
Usher syndrome type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA344832484

rs_1188281491

5 SubmittersRCV000504749 RCV001376219 RCV004701571 RCV004796212 RCV002527328

NM_206933.4(USH2A):c.6050-1G>A

SNV
Germline

Chr1:216048648

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA37460459

rs_1035024403

5 SubmittersRCV000505173 RCV001062758 RCV000674025 RCV003446099 RCV003446100

NM_206933.4(USH2A):c.5603T>G (p.Phe1868Cys)

SNV
Germline

Chr1:216073270

Pathogenic/Likely pathogenic

Usher syndrome
Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA344854897

rs_1553298240

5 SubmittersRCV000504716 RCV000669452 RCV001389284

NM_206933.4(USH2A):c.4222C>T (p.Gln1408Ter)

SNV
Germline

Chr1:216196582

Pathogenic

Retinitis pigmentosa
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
Condition: not provided
not specified
Usher syndrome
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1395785

rs_746551311

15 SubmittersRCV000504899 RCV000666545 RCV001073573 RCV000627213 RCV001002566 RCV003389475 RCV001276258 RCV003449425

NM_206933.4(USH2A):c.4027A>C (p.Asn1343His)

SNV
Germline

Chr1:216198369

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
Usher syndrome

Criteria Provided
Conflicting Classifications

CA1395850

rs_754634823

10 SubmittersRCV000504740 RCV000666331 RCV001239324 RCV001578842 RCV001004872 RCV001073650 RCV005418174

NM_206933.4(USH2A):c.1055C>T (p.Thr352Ile)

SNV
Germline

Chr1:216325393

Pathogenic/Likely pathogenic

Retinitis pigmentosa 39
Retinal dystrophy
Usher syndrome type 2A
USH2A-related disorder
Usher syndrome
Rare genetic deafness
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA1396612

rs_780308389

12 SubmittersRCV000665487 RCV001075415 RCV001834622 RCV001836644 RCV000504656 RCV000824796 RCV000804683

NM_206933.4(USH2A):c.926C>T (p.Pro309Leu)

SNV
Germline

Chr1:216325522

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA344912616

rs_1359713084

4 SubmittersRCV000504774 RCV001300494 RCV001834624 RCV003464081

NM_206933.4(USH2A):c.820C>G (p.Arg274Gly)

SNV
Germline

Chr1:216327619

Pathogenic/Likely pathogenic

Usher syndrome
Condition: not provided
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA1396686

rs_397518036

5 SubmittersRCV000504853 RCV001360100 RCV002470889

NM_206933.4(USH2A):c.100C>T (p.Arg34Ter)

SNV
Germline

Chr1:216422237

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA1396855

rs_772808534

10 SubmittersRCV000504668 RCV000673031 RCV001273815 RCV001039961 RCV001376313 RCV003479142

NM_032119.4(ADGRV1):c.8807C>G (p.Ser2936Ter)

SNV
Germline

Chr5:90708892

Pathogenic

Usher syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA360393636

rs_1554090072

2 SubmittersRCV000504781 RCV003558425

NM_032119.4(ADGRV1):c.12798T>A (p.Tyr4266Ter)

SNV
Germline

Chr5:90778558

Pathogenic

Usher syndrome
Condition: not provided
Retinal dystrophy
Febrile seizures, familial, 4
Usher syndrome type 2C

Criteria Provided
Multiple Submitters
No Conflicts

CA3341335

rs_777309662

5 SubmittersRCV000504819 RCV001381661 RCV001075449 RCV005034048

NM_032119.4(ADGRV1):c.14517G>C (p.Gln4839His)

SNV
Unknown

Chr5:90791346

Likely pathogenic

Usher syndrome

No Assertion Criteria Provided

CA360403008

rs_1554117973

1 SubmittersRCV000504938

NM_032119.4(ADGRV1):c.17314C>T (p.Arg5772Ter)

SNV
Germline

Chr5:90853393

Pathogenic

Usher syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3342343

rs_749956288

3 SubmittersRCV000505136 RCV000710438

NM_000260.4(MYO7A):c.324C>A (p.Tyr108Ter)

SNV
Germline

Chr11:77155945

Pathogenic

Usher syndrome
Condition: not provided
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2

Criteria Provided
Multiple Submitters
No Conflicts

CA381931149

rs_116892396

3 SubmittersRCV000504875 RCV001390810 RCV005004196

NM_000260.4(MYO7A):c.721C>T (p.Arg241Cys)

SNV
Germline

Chr11:77156990

Pathogenic

Usher syndrome
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1B
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11

Criteria Provided
Multiple Submitters
No Conflicts

CA6197223

rs_782166819

8 SubmittersRCV000505169 RCV000666535 RCV001380427 RCV001542592 RCV001829440 RCV005004198

NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro)

SNV
Germline

Chr11:77172799

Likely pathogenic

Usher syndrome
Autosomal recessive nonsyndromic hearing loss 2
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Hearing loss, autosomal recessive
Condition: not provided
Nonsyndromic genetic hearing loss
Usher syndrome type 1

Reviewed By Expert Panel

CA6197628

rs_782063761

7 SubmittersRCV000504967 RCV000681537 RCV000670176 RCV001291471 RCV003558426 RCV004595510 RCV005623076

NM_000260.4(MYO7A):c.2905-1G>A

SNV
Unknown

Chr11:77181950

Likely pathogenic

Usher syndrome

No Assertion Criteria Provided

CA381943752

rs_1171417339

1 SubmittersRCV000504686

NM_000260.4(MYO7A):c.3546C>A (p.Asn1182Lys)

SNV
Germline

Chr11:77189386

Likely pathogenic

Usher syndrome
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided

Reviewed By Expert Panel

CA381946913

rs_1555090294

6 SubmittersRCV000505067 RCV000670174 RCV001047383

NM_000260.4(MYO7A):c.6551C>T (p.Thr2184Met)

SNV
Germline

Chr11:77213972

Pathogenic/Likely pathogenic

Usher syndrome
Condition: not provided
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2

Criteria Provided
Multiple Submitters
No Conflicts

CA381938356

rs_1383147250

4 SubmittersRCV000504907 RCV001857218 RCV005004197

NM_000260.4(MYO7A):c.1349A>T (p.Glu450Val)

SNV
Germline

Chr11:77162125

Likely pathogenic

Usher syndrome type 1
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA381935201

rs_1555069238

3 SubmittersRCV000505567 RCV001229028 RCV005010448

NM_032119.4(ADGRV1):c.12982G>A (p.Glu4328Lys)

SNV
Germline

Chr5:90778997

Conflicting classifications of pathogenicity

not specified
Febrile seizures, familial, 4
Usher syndrome type 2C
Condition: not provided
Optic atrophy

Criteria Provided
Conflicting Classifications

CA3341390

rs_182452385

5 SubmittersRCV000506499 RCV000765853 RCV001347959 RCV004817737

NM_001384140.1(PCDH15):c.3127C>T (p.Pro1043Ser)

SNV
Germline

Chr10:53940971

Conflicting classifications of pathogenicity

Usher syndrome type 1F
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5505787

rs_189284385

6 SubmittersRCV001834641 RCV000506827

NM_206933.4(USH2A):c.5118G>A (p.Trp1706Ter)

SNV
Germline

Chr1:216084747

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Hearing impairment
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344858879

rs_1461319754

8 SubmittersRCV001073947 RCV000513450 RCV000672338 RCV001375184 RCV003449460 RCV003449461

NM_206933.4(USH2A):c.4365T>G (p.Ser1455Arg)

SNV
Germline

Chr1:216190254

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2

Criteria Provided
Conflicting Classifications

CA344865155

rs_1553312493

3 SubmittersRCV000513442 RCV001199591

NM_022124.6(CDH23):c.2866G>A (p.Glu956Lys)

SNV
Germline

Chr10:71705043

Pathogenic

Autosomal recessive nonsyndromic hearing loss 12
Condition: not provided
Sensorineural hearing loss disorder
Hearing loss, autosomal recessive
Pituitary adenoma 5, multiple types
Usher syndrome type 1D
Pituitary adenoma 5, multiple types
Autosomal recessive nonsyndromic hearing loss 12

Reviewed By Expert Panel

CA5544361

rs_756147087

9 SubmittersRCV000515744 RCV000512765 RCV001004777 RCV001291208 RCV003476209 RCV004796215

NM_002109.6(HARS1):c.464T>G (p.Val155Gly)

SNV
Germline

Chr5:140679060

Conflicting classifications of pathogenicity

Autosomal dominant Charcot-Marie-Tooth disease type 2W
not specified
Usher syndrome type 3B

Criteria Provided
Conflicting Classifications

CA361257029

rs_1239341211

4 SubmittersRCV000515539 RCV004023492 RCV001214564

NM_022124.6(CDH23):c.6085C>T (p.Arg2029Trp)

SNV
Germline

Chr10:71791167

Pathogenic

Autosomal recessive nonsyndromic hearing loss 12
Condition: not provided
Nonsyndromic genetic hearing loss
Pituitary adenoma 5, multiple types
Pituitary adenoma 5, multiple types
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Syndromic retinitis pigmentosa
Usher syndrome type 1D

Reviewed By Expert Panel

CA5545996

rs_750880909

8 SubmittersRCV000515743 RCV002251483 RCV003239292 RCV003476213 RCV005044763 RCV005418185 RCV004787819

NM_022124.6(CDH23):c.6712+1G>A

SNV
Germline

Chr10:71793641

Pathogenic/Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 12
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Pituitary adenoma 5, multiple types

Criteria Provided
Multiple Submitters
No Conflicts

CA377155633

rs_1554874900

2 SubmittersRCV000515725 RCV005044764

NM_022124.6(CDH23):c.7312G>A (p.Glu2438Lys)

SNV
Germline

Chr10:71799579

Pathogenic/Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA377159510

rs_1264310782

2 SubmittersRCV000515741 RCV004782416

NM_032119.4(ADGRV1):c.13228G>A (p.Glu4410Lys)

SNV
Germline

Chr5:90781575

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome

Criteria Provided
Conflicting Classifications

CA3341464

rs_371970388

5 SubmittersRCV000520610 RCV000766598 RCV004787829

NM_001384140.1(PCDH15):c.2897G>C (p.Arg966Thr)

SNV
Germline

Chr10:53961864

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1F
PCDH15-related disorder

Criteria Provided
Conflicting Classifications

CA5505881

rs_568865061

4 SubmittersRCV000519130 RCV001829495 RCV004537877

NM_001384140.1(PCDH15):c.131T>C (p.Val44Ala)

SNV
Germline

Chr10:54527838

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive nonsyndromic hearing loss 23
Usher syndrome type 1F

Criteria Provided
Conflicting Classifications

CA5506792

rs_750302536

6 SubmittersRCV000522599 RCV001004802 RCV001275408

NM_022124.6(CDH23):c.8914G>A (p.Glu2972Lys)

SNV
Germline

Chr10:71810011

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Inborn genetic diseases
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA5546793

rs_746716712

6 SubmittersRCV000519679 RCV001103062 RCV001103063 RCV002525225 RCV001834705

NM_153676.4(USH1C):c.2590C>T (p.Arg864Ter)

SNV
Germline

Chr11:17495634

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive nonsyndromic hearing loss 18A
Usher syndrome type 1C

Criteria Provided
Conflicting Classifications

CA5904083

rs_767767573

3 SubmittersRCV000520104 RCV000664922

NM_002109.6(HARS1):c.1445C>T (p.Thr482Met)

SNV
Germline

Chr5:140674692

Conflicting classifications of pathogenicity

Usher syndrome type 3B
Condition: not provided
Retinal dystrophy
HARS1-related disorder

Criteria Provided
Conflicting Classifications

CA3443819

rs_147372931

4 SubmittersRCV001086767 RCV000835736 RCV001073307 RCV003915604

NM_002109.6(HARS1):c.14C>A (p.Ala5Glu)

SNV
Germline

Chr5:140691291

Conflicting classifications of pathogenicity

Usher syndrome type 3B
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3444238

rs_78741041

9 SubmittersRCV000525701 RCV000606943 RCV001573133

NM_002109.6(HARS1):c.52G>A (p.Val18Met)

SNV
Germline

Chr5:140691253

Conflicting classifications of pathogenicity

Usher syndrome type 3B
not specified
HARS1-related disorder

Criteria Provided
Conflicting Classifications

CA3444230

rs_774632798

4 SubmittersRCV000524753 RCV001001086 RCV003409814

NM_206933.4(USH2A):c.4957C>T (p.Arg1653Ter)

SNV
Germline

Chr1:216086749

Pathogenic

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa
Leber congenital amaurosis
Retinal dystrophy
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1395583

rs_754768875

11 SubmittersRCV000578898 RCV000670513 RCV000787731 RCV000787898 RCV003889925 RCV003465286

NM_206933.4(USH2A):c.12448A>G (p.Thr4150Ala)

SNV
Germline

Chr1:215675463

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
not specified
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA344850876

rs_1172628170

6 SubmittersRCV000585084 RCV001003256 RCV001269243 RCV001835857

NM_032119.4(ADGRV1):c.18348C>T (p.Ser6116=)

SNV
Germline

Chr5:91102256

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2C

Criteria Provided
Conflicting Classifications

CA3342631

rs_774124713

3 SubmittersRCV000594333 RCV001157759

NM_022124.6(CDH23):c.3924C>T (p.Asp1308=)

SNV
Germline

Chr10:71732195

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA5544869

rs_776501112

3 SubmittersRCV000592156 RCV001835860

NM_206933.4(USH2A):c.1876C>T (p.Arg626Ter)

SNV
Germline

Chr1:216289375

Pathogenic

Usher syndrome
Condition: not provided
Retinal dystrophy
Usher syndrome type 2A
Retinitis pigmentosa 39
Ear malformation
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1396371

rs_534534437

17 SubmittersRCV000592080 RCV000599059 RCV001074303 RCV001271237 RCV001376324 RCV001814193 RCV002506407

NM_000260.4(MYO7A):c.5480+10G>A

SNV
Germline

Chr11:77204239

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2

Criteria Provided
Conflicting Classifications

CA6198715

rs_768513428

3 SubmittersRCV000594036 RCV001112056 RCV001112057 RCV001112058

NM_000260.4(MYO7A):c.3038C>T (p.Thr1013Ile)

SNV
Germline

Chr11:77182084

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA224841749

rs_369539923

6 SubmittersRCV000597975 RCV000726712 RCV001835862 RCV002532383

NM_000260.4(MYO7A):c.2097C>T (p.Gly699=)

SNV
Germline

Chr11:77175374

Conflicting classifications of pathogenicity

Usher syndrome type 1B
Condition: not provided
MYO7A-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA6197702

rs_373495082

6 SubmittersRCV001279395 RCV000591799 RCV004543329 RCV004701681

NM_022124.6(CDH23):c.7145G>A (p.Arg2382Gln)

SNV
Germline

Chr10:71799201

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Pituitary adenoma 5, multiple types
Autosomal recessive nonsyndromic hearing loss 12
Pituitary adenoma 5, multiple types

Criteria Provided
Conflicting Classifications

CA5546273

rs_759439688

6 SubmittersRCV000592322 RCV002232558 RCV002283493 RCV002483589 RCV003471953

NM_206933.4(USH2A):c.5802G>A (p.Ser1934=)

SNV
Germline

Chr1:216072944

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A
not specified

Criteria Provided
Conflicting Classifications

CA1395348

rs_149776188

5 SubmittersRCV000598287 RCV001273047 RCV005056258

NM_206933.4(USH2A):c.13547G>C (p.Gly4516Ala)

SNV
Germline

Chr1:215674364

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A
not specified

Criteria Provided
Conflicting Classifications

CA344844669

rs_774759345

5 SubmittersRCV000594966 RCV001834880 RCV003987614

NM_001384140.1(PCDH15):c.4049G>A (p.Arg1350His)

SNV
Germline

Chr10:53831468

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1F

Criteria Provided
Conflicting Classifications

CA5505479

rs_752356781

3 SubmittersRCV000591050 RCV001278199

NM_032119.4(ADGRV1):c.2596C>T (p.Arg866Trp)

SNV
Germline

Chr5:90643845

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Usher syndrome type 2C
ADGRV1-related disorder

Criteria Provided
Conflicting Classifications

CA3338975

rs_200389929

7 SubmittersRCV000595268 RCV000785014 RCV001155013 RCV004737866

NM_006383.4(CIB2):c.556C>T (p.Arg186Trp)

SNV
Germline

Chr15:78105319

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive nonsyndromic hearing loss 48
Childhood onset hearing loss
not specified
Usher syndrome
Hearing loss, autosomal recessive
Usher syndrome type 1J
Autosomal recessive nonsyndromic hearing loss 48

Criteria Provided
Conflicting Classifications

CA7680111

rs_370359511

10 SubmittersRCV000596997 RCV001290343 RCV001328027 RCV001195601 RCV002307557 RCV004719037 RCV005004262

NM_022124.6(CDH23):c.330C>T (p.His110=)

SNV
Germline

Chr10:71510995

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1
CDH23-related disorder

Criteria Provided
Conflicting Classifications

CA5543376

rs_201232514

5 SubmittersRCV000592942 RCV001835867 RCV004543359

NM_032119.4(ADGRV1):c.12818A>G (p.His4273Arg)

SNV
Germline

Chr5:90778578

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2C
Febrile seizures, familial, 4

Criteria Provided
Conflicting Classifications

CA3341339

rs_201480340

4 SubmittersRCV000593923 RCV002491203

NM_032119.4(ADGRV1):c.14959G>A (p.Gly4987Arg)

SNV
Germline

Chr5:90807724

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2C
Febrile seizures, familial, 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3341840

rs_190988309

6 SubmittersRCV000597017 RCV001152059 RCV001334319 RCV002532503

NM_153676.4(USH1C):c.360C>T (p.Gly120=)

SNV
Germline

Chr11:17531181

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1C
USH1C-related disorder

Criteria Provided
Conflicting Classifications

CA5905091

rs_140869579

4 SubmittersRCV000595046 RCV001276297 RCV003905539

NM_000260.4(MYO7A):c.578C>T (p.Thr193Ile)

SNV
Germline

Chr11:77156767

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1B

Criteria Provided
Conflicting Classifications

CA381931971

rs_1188616455

5 SubmittersRCV000595488 RCV000669244 RCV001829662

NM_153676.4(USH1C):c.1039C>T (p.Gln347Ter)

SNV
Germline

Chr11:17521392

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome type 1C
Autosomal recessive nonsyndromic hearing loss 18A
USH1C-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA5904739

rs_762551629

6 SubmittersRCV000598390 RCV000984228 RCV000984229 RCV004755980

NM_000260.4(MYO7A):c.5944G>A (p.Gly1982Arg)

SNV
Germline

Chr11:77208517

Pathogenic

Condition: not provided
Retinal dystrophy
Usher syndrome type 1B

Criteria Provided
Multiple Submitters
No Conflicts

CA6198875

rs_761469964

5 SubmittersRCV000591647 RCV001074974 RCV001829663

NM_153676.4(USH1C):c.669C>A (p.Gly223=)

SNV
Germline

Chr11:17526352

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1C
USH1C-related disorder

Criteria Provided
Conflicting Classifications

CA5904929

rs_144761543

6 SubmittersRCV000595340 RCV001103387 RCV004730989

NM_153676.4(USH1C):c.2265C>T (p.Leu755=)

SNV
Germline

Chr11:17501497

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1C
USH1C-related disorder

Criteria Provided
Conflicting Classifications

CA5904257

rs_151251262

6 SubmittersRCV000594031 RCV001829670 RCV004755981

NM_000260.4(MYO7A):c.1299C>T (p.Ile433=)

SNV
Germline

Chr11:77161071

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1B

Criteria Provided
Conflicting Classifications

CA6197448

rs_782163200

3 SubmittersRCV000595803 RCV001829671

NM_206933.4(USH2A):c.13343A>G (p.Asp4448Gly)

SNV
Germline

Chr1:215674568

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1393308

rs_150532013

4 SubmittersRCV000596571 RCV001829676 RCV004686594

NM_206933.4(USH2A):c.11047+1G>A

SNV
Germline

Chr1:215766680

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39
Retinal dystrophy
Usher syndrome
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA16609670

rs_201730567

9 SubmittersRCV000597898 RCV000670491 RCV001075129 RCV004586822 RCV005019022

NM_206933.4(USH2A):c.2809+2T>A

SNV
Germline

Chr1:216246583

Pathogenic/Likely pathogenic

Condition: not provided
Rare genetic deafness
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344863986

rs_1553320397

4 SubmittersRCV000599015 RCV000605844 RCV003446171

NM_032119.4(ADGRV1):c.17062C>T (p.Arg5688Ter)

SNV
Germline

Chr5:90848679

Pathogenic

Condition: not provided
Usher syndrome type 2C
Febrile seizures, familial, 4

Criteria Provided
Multiple Submitters
No Conflicts

CA3342284

rs_747622607

3 SubmittersRCV000598600 RCV000763551

NM_206933.4(USH2A):c.4645C>T (p.Arg1549Ter)

SNV
Germline

Chr1:216097196

Pathogenic

Rare genetic deafness
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39
USH2A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA1395659

rs_199679165

11 SubmittersRCV000605510 RCV000669125 RCV001002689 RCV001208453 RCV003451354 RCV004732969

NM_206933.4(USH2A):c.14453C>T (p.Pro4818Leu)

SNV
Germline

Chr1:215648657

Pathogenic/Likely pathogenic

Rare genetic deafness
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
USH2A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA1393019

rs_143344549

15 SubmittersRCV000613330 RCV001040115 RCV001376397 RCV000986515 RCV003155245 RCV002506444 RCV004817810 RCV004732968

NM_206933.4(USH2A):c.11241C>A (p.Tyr3747Ter)

SNV
Germline

Chr1:215758743

Pathogenic

Rare genetic deafness
Usher syndrome
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Reviewed By Expert Panel

CA1393780

rs_777465132

6 SubmittersRCV000605356 RCV000710334 RCV001057761 RCV001271137 RCV003471974

NM_206933.4(USH2A):c.9917G>A (p.Cys3306Tyr)

SNV
Germline

Chr1:215798948

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA1394181

rs_758614136

4 SubmittersRCV000615396 RCV001317800 RCV001829711

NM_032119.4(ADGRV1):c.2759G>A (p.Arg920Gln)

SNV
Germline

Chr5:90644730

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2

Criteria Provided
Conflicting Classifications

CA3339015

rs_766225545

6 SubmittersRCV000612526 RCV001052448 RCV005367449

NM_032119.4(ADGRV1):c.3269T>C (p.Ile1090Thr)

SNV
Germline

Chr5:90647744

Conflicting classifications of pathogenicity

not specified
Inborn genetic diseases
Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3339138

rs_771410054

7 SubmittersRCV000606863 RCV001267530 RCV001151215 RCV001304754

NM_032119.4(ADGRV1):c.10614A>G (p.Gln3538=)

SNV
Germline

Chr5:90745110

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2C

Criteria Provided
Conflicting Classifications

CA3340798

rs_182626712

4 SubmittersRCV000611601 RCV000838597 RCV001157308

NM_032119.4(ADGRV1):c.12704A>G (p.Tyr4235Cys)

SNV
Germline

Chr5:90778464

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 2C
Febrile seizures, familial, 4
Usher syndrome type 2C
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA3341323

rs_200644004

8 SubmittersRCV000606387 RCV000765852 RCV001151949 RCV001323988 RCV004817817

NM_032119.4(ADGRV1):c.18001A>T (p.Met6001Leu)

SNV
Germline

Chr5:90985371

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 2C
Condition: not provided
Usher syndrome type 2C
Febrile seizures, familial, 4
Inborn genetic diseases
ADGRV1-related disorder

Criteria Provided
Conflicting Classifications

CA3342536

rs_200530343

7 SubmittersRCV000615485 RCV001156037 RCV001238549 RCV002483669 RCV002532719 RCV004737879

NM_032119.4(ADGRV1):c.18519G>T (p.Gly6173=)

SNV
Germline

Chr5:91150116

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3342672

rs_752223599

3 SubmittersRCV000608113 RCV001152270 RCV001397560

NM_032119.4(ADGRV1):c.14043+7C>T

SNV
Germline

Chr5:90789858

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA122810888

rs_563519322

3 SubmittersRCV000609048 RCV001157521 RCV002529347

NM_206933.4(USH2A):c.12625G>A (p.Glu4209Lys)

SNV
Germline

Chr1:215675286

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 2A
Condition: not provided
Inborn genetic diseases
USH2A-related disorder

Criteria Provided
Conflicting Classifications

CA1393434

rs_141943290

6 SubmittersRCV000610578 RCV001272950 RCV001454312 RCV002532735 RCV004732970

NM_032119.4(ADGRV1):c.3180G>A (p.Thr1060=)

SNV
Germline

Chr5:90647655

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3339117

rs_201516498

3 SubmittersRCV000615250 RCV001151211 RCV001396688

NM_032119.4(ADGRV1):c.6951+13G>A

SNV
Germline

Chr5:90691054

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3339909

rs_143356203

3 SubmittersRCV000605906 RCV001151571 RCV001509872

NM_032119.4(ADGRV1):c.9877C>T (p.Arg3293Ter)

SNV
Germline

Chr5:90724960

Pathogenic/Likely pathogenic

Rare genetic deafness
Retinal dystrophy
Condition: not provided
Usher syndrome type 2C

Criteria Provided
Multiple Submitters
No Conflicts

CA3340612

rs_769215629

5 SubmittersRCV000602394 RCV001073335 RCV001382658 RCV002221563

NM_032119.4(ADGRV1):c.16874C>T (p.Ser5625Leu)

SNV
Germline

Chr5:90840840

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2C
Febrile seizures, familial, 4

Criteria Provided
Conflicting Classifications

CA3342243

rs_373862154

4 SubmittersRCV000613754 RCV001317551 RCV002506447

NM_032119.4(ADGRV1):c.18754G>A (p.Asp6252Asn)

SNV
Germline

Chr5:91153350

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2C
Usher syndrome type 2C
Febrile seizures, familial, 4
Inborn genetic diseases
ADGRV1-related disorder

Criteria Provided
Conflicting Classifications

CA3342730

rs_201800819

8 SubmittersRCV000610200 RCV000756977 RCV001153547 RCV002491231 RCV002531124 RCV004737881

NM_032119.4(ADGRV1):c.3580G>C (p.Asp1194His)

SNV
Germline

Chr5:90652509

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2C

Criteria Provided
Conflicting Classifications

CA3339208

rs_779520200

3 SubmittersRCV000600844 RCV001203063 RCV004796249

NM_022124.6(CDH23):c.1450-10G>A

SNV
Germline

Chr10:71675102

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1D

Criteria Provided
Conflicting Classifications

CA5543845

rs_751220612

3 SubmittersRCV000611881 RCV000928707 RCV000985224

NM_022124.6(CDH23):c.2289+1G>A

SNV
Germline

Chr10:71694260

Pathogenic

Usher syndrome type 1D
Rare genetic deafness
Usher syndrome type 1
Condition: not provided
Pituitary adenoma 5, multiple types
Usher syndrome type 1D
Pituitary adenoma 5, multiple types
Autosomal recessive nonsyndromic hearing loss 12

Criteria Provided
Multiple Submitters
No Conflicts

CA5544150

rs_769433759

7 SubmittersRCV000611540 RCV000844621 RCV001271848 RCV001226785 RCV003471970 RCV005044898

NM_015404.4(WHRN):c.139A>G (p.Thr47Ala)

SNV
Germline

Chr9:114504663

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2D
Autosomal recessive nonsyndromic hearing loss 31

Criteria Provided
Conflicting Classifications

CA5206357

rs_556585167

4 SubmittersRCV000613409 RCV001067423 RCV001168205 RCV001168206

NM_022124.6(CDH23):c.7055-15G>A

SNV
Germline

Chr10:71799096

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5546257

rs_371872394

3 SubmittersRCV000615673 RCV001102760 RCV001102761 RCV003660819

NM_022124.6(CDH23):c.2954-15C>T

SNV
Germline

Chr10:71706882

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5544402

rs_376377077

3 SubmittersRCV000603194 RCV001103517 RCV001103518 RCV001510250

NM_022124.6(CDH23):c.6664C>T (p.Arg2222Cys)

SNV
Germline

Chr10:71793592

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5546144

rs_761082272

3 SubmittersRCV000602312 RCV001275579 RCV001241141

NM_000260.4(MYO7A):c.4728G>A (p.Lys1576=)

SNV
Germline

Chr11:77199694

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11

Criteria Provided
Conflicting Classifications

CA6198530

rs_758921557

5 SubmittersRCV000615222 RCV001584408 RCV001114660 RCV001114661 RCV001114662

NM_000260.4(MYO7A):c.5665C>T (p.Leu1889=)

SNV
Germline

Chr11:77206125

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6198789

rs_778051833

5 SubmittersRCV000603293 RCV001111677 RCV001111675 RCV001111676 RCV001454263

NM_000260.4(MYO7A):c.6622C>T (p.Gln2208Ter)

SNV
Germline

Chr11:77214670

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1B
Condition: not provided
Autosomal dominant nonsyndromic hearing loss 11

Criteria Provided
Conflicting Classifications

CA6199136

rs_747095250

4 SubmittersRCV000599670 RCV001829700 RCV002307559 RCV003155246

NM_000260.4(MYO7A):c.4505A>G (p.Asp1502Gly)

SNV
Germline

Chr11:77198558

Conflicting classifications of pathogenicity

not specified
Deafness
Hearing loss, autosomal recessive
Usher syndrome type 1B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6198464

rs_757460257

8 SubmittersRCV000604476 RCV000679827 RCV001291098 RCV001834957 RCV001091734

NM_153676.4(USH1C):c.66G>A (p.Glu22=)

SNV
Germline

Chr11:17533293

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5905192

rs_768165881

3 SubmittersRCV000605324 RCV001108638 RCV001411031

NM_000260.4(MYO7A):c.4568+13G>A

SNV
Germline

Chr11:77198634

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6198477

rs_532356676

3 SubmittersRCV000607058 RCV001108924 RCV001108926 RCV001108925 RCV002062135

NM_000260.4(MYO7A):c.52C>T (p.Gln18Ter)

SNV
Germline

Chr11:77142742

Pathogenic

Rare genetic deafness
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2
Condition: not provided
Usher syndrome type 1B
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA381947603

rs_1555051455

7 SubmittersRCV000610416 RCV000668877 RCV001090420 RCV001834916 RCV001198157 RCV005252994

NM_000260.4(MYO7A):c.1258A>T (p.Lys420Ter)

SNV
Germline

Chr11:77161030

Pathogenic

Autosomal recessive nonsyndromic hearing loss 2
Rare genetic deafness
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided
Hearing loss, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

CA6197439

rs_782539587

9 SubmittersRCV000770845 RCV000601432 RCV003447544 RCV001003083 RCV001091730 RCV001291469

NM_000260.4(MYO7A):c.614T>C (p.Ile205Thr)

SNV
Germline

Chr11:77156883

Conflicting classifications of pathogenicity

Usher syndrome type 1B
Retinal dystrophy
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6197202

rs_200241993

7 SubmittersRCV001274691 RCV001075326 RCV000604529 RCV000730421

NM_000260.4(MYO7A):c.486C>T (p.Ala162=)

SNV
Germline

Chr11:77156675

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2

Criteria Provided
Conflicting Classifications

CA6197157

rs_367687624

7 SubmittersRCV000602298 RCV000838487 RCV001109458 RCV001111770 RCV001111771

NM_000260.4(MYO7A):c.2759G>T (p.Arg920Leu)

SNV
Germline

Chr11:77181444

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1B
MYO7A-related disorder

Criteria Provided
Conflicting Classifications

CA6197926

rs_565162134

6 SubmittersRCV000600345 RCV000992402 RCV001834923 RCV004735659

NM_000260.4(MYO7A):c.618C>T (p.Arg206=)

SNV
Germline

Chr11:77156887

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA224827208

rs_375851346

4 SubmittersRCV000599993 RCV000841846 RCV001109569 RCV001109568 RCV001109570

NM_206933.4(USH2A):c.14134-9T>C

SNV
Germline

Chr1:215650810

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA37392676

rs_899521308

3 SubmittersRCV001486918 RCV003446254 RCV003446255

NM_032119.4(ADGRV1):c.10550-7C>T

SNV
Germline

Chr5:90745039

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2C

Criteria Provided
Conflicting Classifications

CA3340785

rs_191228562

4 SubmittersRCV000728588 RCV001155646

NM_173477.5(USH1G):c.1170C>T (p.Ser390=)

SNV
Germline

Chr17:74919666

Conflicting classifications of pathogenicity

Usher syndrome type 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8753920

rs_199724052

3 SubmittersRCV001124405 RCV001437426

NM_000260.4(MYO7A):c.1343+8G>T

SNV
Germline

Chr11:77161123

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11
Condition: not provided
MYO7A-related disorder

Criteria Provided
Conflicting Classifications

CA6197459

rs_2276278

5 SubmittersRCV000601954 RCV001113754 RCV001113756 RCV001113755 RCV001467210 RCV004533259

NM_206933.4(USH2A):c.14698C>T (p.Gln4900Ter)

SNV
Germline

Chr1:215647615

Pathogenic/Likely pathogenic

Inborn genetic diseases
Retinitis pigmentosa 39
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344831449

rs_1553250072

5 SubmittersRCV000624450 RCV003451479 RCV001049229 RCV005019035

NM_022124.6(CDH23):c.3241C>T (p.Arg1081Ter)

SNV
Germline

Chr10:71712685

Pathogenic

Inborn genetic diseases
Condition: not provided
Usher syndrome type 1D
Usher syndrome type 1
Pituitary adenoma 5, multiple types

Criteria Provided
Multiple Submitters
No Conflicts

CA209465100

rs_866435331

6 SubmittersRCV000624916 RCV001386697 RCV001805224 RCV001834974 RCV004568339

NM_022124.6(CDH23):c.2410G>A (p.Asp804Asn)

SNV
Germline

Chr10:71702034

Likely pathogenic

Usher syndrome type 1D

Criteria Provided
Single Submitter

CA377137461

rs_1554857840

1 SubmittersRCV000625802

NM_022124.6(CDH23):c.8378G>A (p.Arg2793Gln)

SNV
Germline

Chr10:71807585

Conflicting classifications of pathogenicity

Usher syndrome type 1D
Condition: not provided
Usher syndrome type 1D
Pituitary adenoma 5, multiple types
Autosomal recessive nonsyndromic hearing loss 12

Criteria Provided
Conflicting Classifications

CA5546637

rs_547034667

3 SubmittersRCV000625803 RCV002533145 RCV005044907

NM_153676.4(USH1C):c.92G>A (p.Arg31Gln)

SNV
Germline

Chr11:17533267

Conflicting classifications of pathogenicity

Usher syndrome type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5905185

rs_776511246

3 SubmittersRCV000625797 RCV002225694

NM_000260.4(MYO7A):c.439C>T (p.Arg147Cys)

SNV
Germline

Chr11:77156060

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1B

Criteria Provided
Conflicting Classifications

CA6197128

rs_782808261

4 SubmittersRCV001350027 RCV000626134 RCV001834981

NM_022124.6(CDH23):c.805C>T (p.Arg269Trp)

SNV
Germline

Chr10:71577965

Pathogenic/Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 12
Pituitary adenoma 5, multiple types
Usher syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA209447663

rs_936479651

4 SubmittersRCV002248478 RCV003475310 RCV005058180 RCV003738165

NM_002109.6(HARS1):c.1402G>A (p.Glu468Lys)

SNV
Germline

Chr5:140674735

Conflicting classifications of pathogenicity

Usher syndrome type 3B
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3443829

rs_199615869

6 SubmittersRCV000650149 RCV000998447 RCV004025793

NM_001195263.2(PDZD7):c.307G>C (p.Gly103Arg)

SNV
Germline

Chr10:101023988

Pathogenic/Likely pathogenic

Hearing loss, autosomal recessive 57
Condition: not provided
Usher syndrome type 2C

Criteria Provided
Multiple Submitters
No Conflicts

CA5654447

rs_148695069

5 SubmittersRCV000656349 RCV001051892 RCV003989572

NM_032119.4(ADGRV1):c.1608C>G (p.Tyr536Ter)

SNV
Germline

Chr5:90629308

Pathogenic

Usher syndrome type 2C

No Assertion Criteria Provided

CA360373615

rs_1561416879

1 SubmittersRCV000721956

NM_032119.4(ADGRV1):c.3974C>T (p.Thr1325Met)

SNV
Germline

Chr5:90653548

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2C
Febrile seizures, familial, 4
Usher syndrome type 2C
Abnormal activity of mitochondrial respiratory chain
ADGRV1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA3339274

rs_756414393

8 SubmittersRCV000659018 RCV000764616 RCV001155124 RCV001375131 RCV004547830 RCV002282295

NM_002109.6(HARS1):c.90+1G>C

SNV
Germline

Chr5:140691214

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 3B
Autosomal dominant Charcot-Marie-Tooth disease type 2W
Usher syndrome type 3B

Criteria Provided
Conflicting Classifications

CA361191603

rs_1554109203

3 SubmittersRCV000659027 RCV000660455 RCV000807497

NM_206933.4(USH2A):c.14384T>G (p.Leu4795Arg)

SNV
Germline

Chr1:215648726

Conflicting classifications of pathogenicity

Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Retinal dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA37390459

rs_199851839

7 SubmittersRCV000668551 RCV000678645 RCV001075854 RCV001855501

NM_206933.4(USH2A):c.14344-1G>A

SNV
Unknown

Chr1:215648767

Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A

No Assertion Criteria Provided

CA344834343

rs_919142559

1 SubmittersRCV000673678

NM_206933.4(USH2A):c.13621C>T (p.Gln4541Ter)

SNV
Germline

Chr1:215674290

Pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA37412255

rs_765476745

7 SubmittersRCV000670968 RCV001004142 RCV003453316 RCV001388593

NM_206933.4(USH2A):c.12790G>A (p.Glu4264Lys)

SNV
Germline

Chr1:215675121

Conflicting classifications of pathogenicity

Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Retinal dystrophy
Usher syndrome type 2A
USH2A-related disorder

Criteria Provided
Conflicting Classifications

CA1393409

rs_200792578

7 SubmittersRCV000665011 RCV000924302 RCV001073347 RCV001835069 RCV004533463

NM_206933.4(USH2A):c.15412C>T (p.Gln5138Ter)

SNV
Germline

Chr1:215628921

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA37369146

rs_763463859

3 SubmittersRCV000673159 RCV003698808 RCV003465523

NM_206933.4(USH2A):c.13811+1G>A

SNV
Germline

Chr1:215674099

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16609664

rs_1177257719

7 SubmittersRCV000672985 RCV001073725 RCV001231260 RCV003446335 RCV003446336 RCV005240444

NM_206933.4(USH2A):c.11048-2A>G

SNV
Germline

Chr1:215759845

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA1393826

rs_200871041

9 SubmittersRCV000821987 RCV001074654 RCV002468597 RCV001810473

NM_206933.4(USH2A):c.10388-1G>A

SNV
Germline

Chr1:215782936

Pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344838261

rs_1553261478

5 SubmittersRCV000673642 RCV002531341 RCV003446338 RCV003446337

NM_206933.4(USH2A):c.15017C>T (p.Thr5006Met)

SNV
Germline

Chr1:215639190

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Retinal dystrophy
Usher syndrome type 2A
Usher syndrome
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1392832

rs_757676723

10 SubmittersRCV000668847 RCV000792611 RCV001074753 RCV001276145 RCV001731867 RCV003453276

NM_206933.4(USH2A):c.15178T>C (p.Ser5060Pro)

SNV
Germline

Chr1:215634578

Conflicting classifications of pathogenicity

Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome type 2A
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA1392770

rs_752377040

7 SubmittersRCV000667292 RCV001004140 RCV001059699 RCV001075374 RCV003465473

NM_206933.4(USH2A):c.15052+1G>A

SNV
Unknown

Chr1:215639154

Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A

No Assertion Criteria Provided

CA344826228

rs_1553249290

1 SubmittersRCV000667083

NM_206933.4(USH2A):c.9959-1G>A

SNV
Unknown

Chr1:215790283

Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39

No Assertion Criteria Provided

CA344844967

rs_970237364

1 SubmittersRCV000669892

NM_206933.4(USH2A):c.9815C>T (p.Pro3272Leu)

SNV
Germline

Chr1:215799050

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
Condition: not provided
Retinitis pigmentosa
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA1394199

rs_764182950

13 SubmittersRCV000668871 RCV000678659 RCV000986527 RCV001073802 RCV001209780 RCV001724125 RCV003389477

NM_206933.4(USH2A):c.11712-2A>C

SNV
Germline

Chr1:215728386

Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA1393631

rs_753505333

5 SubmittersRCV000672715 RCV003446330 RCV002532133 RCV003446331 RCV005240443

NM_206933.4(USH2A):c.14131C>T (p.Gln4711Ter)

SNV
Germline

Chr1:215670974

Pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1393147

rs_747063294

13 SubmittersRCV000669826 RCV001074508 RCV001380767 RCV003453291 RCV003453292

NM_206933.4(USH2A):c.13822C>T (p.Arg4608Ter)

SNV
Germline

Chr1:215671283

Pathogenic/Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA1393192

rs_367674026

7 SubmittersRCV000673923 RCV001212324 RCV001075535 RCV001376439 RCV003453369

NM_206933.4(USH2A):c.9453T>A (p.Tyr3151Ter)

SNV
Unknown

Chr1:215817114

Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39

No Assertion Criteria Provided

CA344825039

rs_1553265829

1 SubmittersRCV000669839

NM_206933.4(USH2A):c.13811+2T>C

SNV
Unknown

Chr1:215674098

Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39

No Assertion Criteria Provided

CA1393216

rs_766515318

1 SubmittersRCV000672770

NM_206933.4(USH2A):c.9270C>A (p.Cys3090Ter)

SNV
Germline

Chr1:215838092

Pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA1394362

rs_779572631

9 SubmittersRCV000673284 RCV001074343 RCV001091126 RCV003453363 RCV003453364 RCV004584401

NM_206933.4(USH2A):c.14969-1G>A

SNV
Unknown

Chr1:215639239

Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A

No Assertion Criteria Provided

CA344826847

rs_1553249311

1 SubmittersRCV000664876

NM_206933.4(USH2A):c.9055+1G>A

SNV
Germline

Chr1:215845823

Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344840105

rs_1553268562

5 SubmittersRCV000674124 RCV001861835 RCV003446340 RCV003446339

NM_206933.4(USH2A):c.13094G>A (p.Trp4365Ter)

SNV
Unknown

Chr1:215674817

Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39

No Assertion Criteria Provided

CA344846621

rs_1163061829

1 SubmittersRCV000672003

NM_206933.4(USH2A):c.8682-2A>C

SNV
Germline

Chr1:215867172

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344851538

rs_1553271002

4 SubmittersRCV000670330 RCV001377278 RCV003446313 RCV003446312

NM_206933.4(USH2A):c.11831C>A (p.Ala3944Asp)

SNV
Germline

Chr1:215728265

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA344829065

rs_1431048303

6 SubmittersRCV000670856 RCV002265845 RCV003453311 RCV003453310 RCV003558512 RCV004817898

NM_206933.4(USH2A):c.8557A>T (p.Arg2853Ter)

SNV
Germline

Chr1:215878765

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA1394590

rs_749452910

6 SubmittersRCV000671631 RCV001389150 RCV001074600 RCV003453327 RCV003453326

NM_206933.4(USH2A):c.11712-2A>G

SNV
Unknown

Chr1:215728386

Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39

No Assertion Criteria Provided

CA1393630

rs_753505333

1 SubmittersRCV000670898

NM_206933.4(USH2A):c.8079G>A (p.Trp2693Ter)

SNV
Germline

Chr1:215888570

Pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344838956

rs_1553273330

7 SubmittersRCV000669141 RCV001073245 RCV001389152 RCV003453280 RCV003453281

NM_206933.4(USH2A):c.10859T>C (p.Ile3620Thr)

SNV
Germline

Chr1:215779923

Pathogenic/Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA1393903

rs_779716464

6 SubmittersRCV000666031 RCV001035468 RCV001273694 RCV003459575 RCV003889945

NM_206933.4(USH2A):c.6967C>T (p.Arg2323Ter)

SNV
Germline

Chr1:215965470

Pathogenic/Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome
Retinal dystrophy
USH2A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA344852637

rs_1485173724

10 SubmittersRCV000674780 RCV000797378 RCV001829884 RCV003453389 RCV003389481 RCV004817912 RCV004527731

NM_206933.4(USH2A):c.6902T>C (p.Leu2301Ser)

SNV
Germline

Chr1:215970680

Conflicting classifications of pathogenicity

Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy
Retinitis pigmentosa
Usher syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1395005

rs_759494205

5 SubmittersRCV000669684 RCV001073606 RCV000787739 RCV002271557 RCV002532090

NM_206933.4(USH2A):c.10657G>A (p.Asp3553Asn)

SNV
Germline

Chr1:215782125

Conflicting classifications of pathogenicity

Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA344836727

rs_910086490

4 SubmittersRCV000674831 RCV001230929 RCV005240451

NM_206933.4(USH2A):c.10636G>A (p.Gly3546Arg)

SNV
Germline

Chr1:215782146

Pathogenic/Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344836841

rs_1553261372

6 SubmittersRCV000673865 RCV001075394 RCV001861824 RCV003453367 RCV003453368

NM_206933.4(USH2A):c.14791+2T>A

SNV
Germline

Chr1:215647520

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344830652

rs_1553250050

3 SubmittersRCV000669209 RCV001855516 RCV003446306 RCV003446305

NM_206933.4(USH2A):c.11231+1G>A

SNV
Germline

Chr1:215759659

Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA10575437

rs_111033382

3 SubmittersRCV000672187 RCV002531309 RCV003446325 RCV003446326

NM_206933.4(USH2A):c.6805+1G>T

SNV
Germline

Chr1:215993019

Pathogenic/Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344860088

rs_1553285919

5 SubmittersRCV000674125 RCV001380331 RCV003446341 RCV003446342

NM_206933.4(USH2A):c.6326-2A>G

SNV
Germline

Chr1:216000564

Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344862029

rs_1553287118

3 SubmittersRCV000672161 RCV003446321 RCV002531307 RCV003446322

NM_206933.4(USH2A):c.14582+1G>C

SNV
Germline

Chr1:215648527

Likely pathogenic

Retinal dystrophy
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA344832977

rs_1553250150

5 SubmittersRCV001075758 RCV000664550 RCV001376398 RCV003446293 RCV003669164

NM_206933.4(USH2A):c.14570G>C (p.Gly4857Ala)

SNV
Germline

Chr1:215648540

Conflicting classifications of pathogenicity

Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa
Condition: not provided
Usher syndrome type 2A
not specified
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA1392993

rs_749889050

6 SubmittersRCV000674387 RCV001003250 RCV001047727 RCV001829883 RCV002271563 RCV003453383

NM_206933.4(USH2A):c.5399G>A (p.Trp1800Ter)

SNV
Germline

Chr1:216078262

Pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Retinal dystrophy
Usher syndrome type 2A
Usher syndrome
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344856312

rs_1553299079

9 SubmittersRCV000672460 RCV001091135 RCV001074797 RCV002272322 RCV002469251 RCV003453347

NM_206933.4(USH2A):c.5018T>C (p.Leu1673Pro)

SNV
Germline

Chr1:216084847

Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344859302

rs_1162305984

6 SubmittersRCV000674537 RCV001300491 RCV003453385 RCV003453384

NM_206933.4(USH2A):c.14424C>A (p.Cys4808Ter)

SNV
Germline

Chr1:215648686

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2

No Assertion Criteria Provided

CA344833863

rs_1553250184

2 SubmittersRCV000667924 RCV001003251

NM_206933.4(USH2A):c.13812-1G>A

SNV
Germline

Chr1:215671294

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA37410313

rs_199782530

5 SubmittersRCV000664526 RCV001868194 RCV003446291 RCV003446292 RCV004817862

NM_206933.4(USH2A):c.10586-2A>G

SNV
Germline

Chr1:215782198

Pathogenic/Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA1393974

rs_370327669

5 SubmittersRCV000665854 RCV001861747 RCV003446297 RCV003446296 RCV004817871

NM_206933.4(USH2A):c.13339A>G (p.Met4447Val)

SNV
Germline

Chr1:215674572

Conflicting classifications of pathogenicity

Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy
Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA1393310

rs_139474806

12 SubmittersRCV000669731 RCV001074211 RCV001003255 RCV001244688 RCV001376262 RCV003313971

NM_206933.4(USH2A):c.10525A>T (p.Lys3509Ter)

SNV
Germline

Chr1:215782798

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA37437831

rs_944675223

6 SubmittersRCV000670682 RCV003453308 RCV001383884 RCV003453309

NM_206933.4(USH2A):c.10465G>A (p.Ala3489Thr)

SNV
Germline

Chr1:215782858

Conflicting classifications of pathogenicity

Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
USH2A-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA344837845

rs_1553261464

6 SubmittersRCV000669285 RCV001055911 RCV004723053 RCV004817888

NM_206933.4(USH2A):c.12580T>C (p.Cys4194Arg)

SNV
Germline

Chr1:215675331

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344850567

rs_769001387

4 SubmittersRCV000673184 RCV001376749 RCV003472152

NM_206933.4(USH2A):c.4397-1G>A

SNV
Germline

Chr1:216175483

Pathogenic/Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Retinal dystrophy
Usher syndrome type 2A
Retinitis pigmentosa 39
USH2A-related disorder
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA1395712

rs_199982344

9 SubmittersRCV000665749 RCV001205806 RCV001075029 RCV001835072 RCV003446295 RCV004533465 RCV005407858

NM_206933.4(USH2A):c.9258+1G>T

SNV
Germline

Chr1:215844293

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Usher syndrome
Retinal dystrophy
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344838406

rs_748810737

7 SubmittersRCV000671455 RCV001855560 RCV003230570 RCV001075805 RCV003446317 RCV003446318

NM_206933.4(USH2A):c.10421A>G (p.Tyr3474Cys)

SNV
Germline

Chr1:215782902

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Retinitis pigmentosa 39
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA1394016

rs_749121941

4 SubmittersRCV000669541 RCV001242045 RCV003459612 RCV004817892

NM_206933.4(USH2A):c.10388-2A>G

SNV
Germline

Chr1:215782937

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344838265

rs_1553261479

7 SubmittersRCV000670401 RCV001073509 RCV001212598 RCV001830446 RCV003446314

NM_206933.4(USH2A):c.12268C>A (p.Pro4090Thr)

SNV
Germline

Chr1:215680175

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa
Retinitis pigmentosa 39
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1393514

rs_780893919

8 SubmittersRCV001245259 RCV001810465 RCV001003257 RCV003459567 RCV004817866

NM_206933.4(USH2A):c.12232G>T (p.Glu4078Ter)

SNV
Germline

Chr1:215680211

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA37358034

rs_988693758

8 SubmittersRCV000668946 RCV001074255 RCV001062119 RCV001829851 RCV003453277

NM_206933.4(USH2A):c.8834G>A (p.Trp2945Ter)

SNV
Germline

Chr1:215867018

Pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA1394494

rs_760302201

6 SubmittersRCV000673985 RCV001861829 RCV003453372 RCV003453373 RCV004817908

NM_206933.4(USH2A):c.8682-1G>A

SNV
Germline

Chr1:215867171

Pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA344851536

rs_1553271001

4 SubmittersRCV000665425 RCV003459571 RCV003688868 RCV004817869

NM_206933.4(USH2A):c.3317-1G>A

SNV
Germline

Chr1:216200122

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA344869180

rs_1553313909

3 SubmittersRCV000669263 RCV005091941

NM_206933.4(USH2A):c.2776C>T (p.Arg926Cys)

SNV
Germline

Chr1:216246618

Conflicting classifications of pathogenicity

Retinitis pigmentosa 39
Usher syndrome type 2A
not specified
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1396169

rs_749621457

5 SubmittersRCV000666463 RCV003330880 RCV003451646 RCV003451647 RCV003889947

NM_206933.4(USH2A):c.2617G>A (p.Gly873Arg)

SNV
Germline

Chr1:216246777

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Usher syndrome type 2A
not specified

Criteria Provided
Conflicting Classifications

CA37501180

rs_1037325220

5 SubmittersRCV001868195 RCV000664639 RCV003451626 RCV003451625 RCV004782495

NM_206933.4(USH2A):c.11328T>A (p.Tyr3776Ter)

SNV
Germline

Chr1:215758656

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA344820642

rs_749726310

4 SubmittersRCV000664530 RCV003451624 RCV003451623 RCV001247302

NM_206933.4(USH2A):c.9871G>A (p.Gly3291Ser)

SNV
Germline

Chr1:215798994

Conflicting classifications of pathogenicity

Retinitis pigmentosa 39
Usher syndrome type 2A
not specified
Condition: not provided
Usher syndrome type 2A
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1394192

rs_138543813

11 SubmittersRCV000665320 RCV000825851 RCV001058364 RCV001276955 RCV004817868

NM_206933.4(USH2A):c.9258G>T (p.Gln3086His)

SNV
Germline

Chr1:215844294

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA344838424

rs_1380261595

5 SubmittersRCV000671650 RCV001366543 RCV003459629 RCV004768540

NM_206933.4(USH2A):c.8558+1G>T

SNV
Germline

Chr1:215878763

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Usher syndrome type 2
Retinal dystrophy
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344830124

rs_770383273

5 SubmittersRCV000671361 RCV000818929 RCV001003266 RCV001075752 RCV003446316 RCV003446315

NM_206933.4(USH2A):c.2168-2A>G

SNV
Germline

Chr1:216247228

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA37501658

rs_993185407

8 SubmittersRCV000672583 RCV001073756 RCV001199965 RCV001382734 RCV002272323 RCV003446327

NM_206933.4(USH2A):c.1724G>A (p.Cys575Tyr)

SNV
Germline

Chr1:216292291

Pathogenic/Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1396414

rs_483353054

8 SubmittersRCV000667787 RCV001073924 RCV001067227 RCV001271239 RCV003451662

NM_206933.4(USH2A):c.1390C>T (p.Arg464Cys)

SNV
Germline

Chr1:216323634

Conflicting classifications of pathogenicity

Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA344910217

rs_1423536179

6 SubmittersRCV000666327 RCV001377824 RCV004568500 RCV005431855 RCV001073487

NM_206933.4(USH2A):c.7595-1G>A

SNV
Germline

Chr1:215889055

Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Single Submitter

CA344841967

rs_1553273421

3 SubmittersRCV004568546 RCV005614437 RCV000671968

NM_206933.4(USH2A):c.9119G>A (p.Trp3040Ter)

SNV
Germline

Chr1:215844433

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344838994

rs_1269642027

4 SubmittersRCV000670876 RCV001381383 RCV001830449 RCV003453315

NM_206933.4(USH2A):c.8846-2A>G

SNV
Unknown

Chr1:215846035

Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39

No Assertion Criteria Provided

CA344842277

rs_1553268594

1 SubmittersRCV000668753

NM_206933.4(USH2A):c.6485+1G>A

SNV
Germline

Chr1:216000402

Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344861560

rs_1553287070

6 SubmittersRCV000672769 RCV001861813 RCV003446332 RCV003446333

NM_206933.4(USH2A):c.6050-2A>G

SNV
Germline

Chr1:216048649

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1395246

rs_772124060

5 SubmittersRCV000670084 RCV001377849 RCV001829862 RCV003446311

NM_206933.4(USH2A):c.8845+1G>A

SNV
Unknown

Chr1:215867006

Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa 39

Criteria Provided
Single Submitter

CA344850895

rs_1553270954

2 SubmittersRCV000669904 RCV003472118

NM_206933.4(USH2A):c.8835G>A (p.Trp2945Ter)

SNV
Germline

Chr1:215867017

Pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy

Criteria Provided
Single Submitter

CA344850957

rs_1553270960

2 SubmittersRCV000669486 RCV004817890

NM_206933.4(USH2A):c.43C>T (p.Gln15Ter)

SNV
Germline

Chr1:216422294

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Usher syndrome
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344905143

rs_1553258122

4 SubmittersRCV000670151 RCV001855538 RCV003155271 RCV003453295 RCV003453294

NM_206933.4(USH2A):c.5572+1G>A

SNV
Germline

Chr1:216078088

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome type 2A
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1395428

rs_775293551

9 SubmittersRCV000815036 RCV001835904 RCV000664714 RCV001073564 RCV003446294

NM_206933.4(USH2A):c.1A>G (p.Met1Val)

SNV
Germline

Chr1:216422336

Conflicting classifications of pathogenicity

Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA37922164

rs_924627806

4 SubmittersRCV000669526 RCV001101305 RCV001101306 RCV001855521

NM_206933.4(USH2A):c.7871C>T (p.Pro2624Leu)

SNV
Germline

Chr1:215888778

Conflicting classifications of pathogenicity

Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy
Retinitis pigmentosa 39
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1394727

rs_748455430

5 SubmittersRCV000671207 RCV001074307 RCV003459622 RCV002531272

NM_206933.4(USH2A):c.7568G>A (p.Trp2523Ter)

SNV
Germline

Chr1:215900101

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344847056

rs_1553274424

4 SubmittersRCV000672102 RCV001231865 RCV003453343 RCV003453342

NM_206933.4(USH2A):c.9469C>T (p.Gln3157Ter)

SNV
Germline

Chr1:215817098

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Usher syndrome type 2A
Usher syndrome
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1394306

rs_772100045

9 SubmittersRCV000671836 RCV000795361 RCV001273701 RCV001844217 RCV003453335

NM_206933.4(USH2A):c.4616C>T (p.Thr1539Ile)

SNV
Germline

Chr1:216175263

Conflicting classifications of pathogenicity

Retinal dystrophy
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA1395684

rs_758095361

7 SubmittersRCV001073769 RCV001810466 RCV002530650 RCV003459568 RCV001731858 RCV005019103

NM_206933.4(USH2A):c.8846-1G>T

SNV
Germline

Chr1:215846034

Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344842267

rs_771051185

4 SubmittersRCV000674857 RCV001724130 RCV002531363 RCV003446345 RCV003446346

NM_206933.4(USH2A):c.7595-1G>T

SNV
Germline

Chr1:215889055

Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344841963

rs_1553273421

4 SubmittersRCV000669247 RCV002532085 RCV003446308 RCV003446307

NM_206933.4(USH2A):c.4988-2A>G

SNV
Germline

Chr1:216084879

Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA1395555

rs_143521854

4 SubmittersRCV000666589 RCV002530692 RCV003446299 RCV003446298

NM_206933.4(USH2A):c.4886-1G>A

SNV
Germline

Chr1:216086821

Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344860054

rs_1553300340

4 SubmittersRCV000672653 RCV001377692 RCV003446329 RCV003446328

NM_206933.4(USH2A):c.4821G>A (p.Trp1607Ter)

SNV
Germline

Chr1:216089077

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA1395609

rs_745350407

7 SubmittersRCV000671982 RCV001074119 RCV001868259 RCV003453338 RCV003453339 RCV003389478

NM_206933.4(USH2A):c.4307C>T (p.Pro1436Leu)

SNV
Germline

Chr1:216190312

Conflicting classifications of pathogenicity

Retinitis pigmentosa 39
Usher syndrome type 2A
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA344865390

rs_1230923403

4 SubmittersRCV000669208 RCV002265843 RCV002532084

NM_206933.4(USH2A):c.3920C>G (p.Ser1307Ter)

SNV
Germline

Chr1:216198476

Pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA1395872

rs_756623509

8 SubmittersRCV000669530 RCV001268204 RCV003453288 RCV003453289 RCV004817891

NM_206933.4(USH2A):c.3883C>T (p.Arg1295Ter)

SNV
Germline

Chr1:216198513

Pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA1395883

rs_764797292

7 SubmittersRCV000672888 RCV001271229 RCV001047995 RCV003453359 RCV003389479

NM_206933.4(USH2A):c.2994-2A>G

SNV
Unknown

Chr1:216217552

Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A

No Assertion Criteria Provided

CA344863038

rs_1553316430

1 SubmittersRCV000665610

NM_206933.4(USH2A):c.2610C>A (p.Cys870Ter)

SNV
Germline

Chr1:216246784

Pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome type 2A
Condition: not provided
Usher syndrome
Rare genetic deafness
Retinal dystrophy
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1396201

rs_767078782

15 SubmittersRCV000673272 RCV001271234 RCV001384598 RCV000826153 RCV001075425 RCV003453362

NM_206933.4(USH2A):c.1729T>C (p.Cys577Arg)

SNV
Germline

Chr1:216292286

Conflicting classifications of pathogenicity

Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA344903241

rs_1553327470

3 SubmittersRCV000668480 RCV001377823 RCV003889952

NM_206933.4(USH2A):c.5167G>C (p.Gly1723Arg)

SNV
Germline

Chr1:216084698

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
USH2A-related disorder
Retinitis pigmentosa 39
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA344858668

rs_1342455785

10 SubmittersRCV000667892 RCV001075428 RCV001067077 RCV001276250 RCV004533468 RCV003451666 RCV004768527

NM_206933.4(USH2A):c.4174G>T (p.Gly1392Ter)

SNV
Germline

Chr1:216196630

Pathogenic/Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA344866400

rs_1177198729

6 SubmittersRCV000666713 RCV001065685 RCV001003274 RCV001376203 RCV003451652 RCV004817872

NM_206933.4(USH2A):c.1678C>G (p.Pro560Ala)

SNV
Germline

Chr1:216292337

Conflicting classifications of pathogenicity

Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome type 2A
Retinitis pigmentosa
Condition: not provided
not specified
Retinitis pigmentosa 39
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1396428

rs_147509797

7 SubmittersRCV000666371 RCV001101108 RCV001101109 RCV001302702 RCV003330879 RCV003451645 RCV003889946

NM_206933.4(USH2A):c.4082-2A>G

SNV
Unknown

Chr1:216196724

Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39

No Assertion Criteria Provided

CA344866791

rs_1553313340

1 SubmittersRCV000669313

NM_206933.4(USH2A):c.1972-1G>A

SNV
Germline

Chr1:216251099

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA37503899

rs_372927796

6 SubmittersRCV000672169 RCV001074724 RCV001377215 RCV003446323 RCV003446324

NM_206933.4(USH2A):c.4081+2T>C

SNV
Unknown

Chr1:216198313

Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39

No Assertion Criteria Provided

CA344866842

rs_1553313505

1 SubmittersRCV000670108

NM_206933.4(USH2A):c.1550G>C (p.Arg517Thr)

SNV
Germline

Chr1:216323474

Conflicting classifications of pathogenicity

Retinal dystrophy
Usher syndrome
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA344909389

rs_1393503590

7 SubmittersRCV001075316 RCV001797777 RCV001230842 RCV001376349 RCV001810471

NM_206933.4(USH2A):c.1397G>T (p.Gly466Val)

SNV
Germline

Chr1:216323627

Pathogenic/Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344910184

rs_1553250627

5 SubmittersRCV000670287 RCV001300493 RCV001829863 RCV003459614

NM_206933.4(USH2A):c.2797C>T (p.Gln933Ter)

SNV
Germline

Chr1:216246597

Pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Condition: not provided
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344864015

rs_1394737087

4 SubmittersRCV000669105 RCV001727791 RCV002531217 RCV003453279

NM_206933.4(USH2A):c.1541T>C (p.Ile514Thr)

SNV
Germline

Chr1:216323483

Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1396494

rs_768813865

3 SubmittersRCV000666580 RCV001227344 RCV003459581

NM_206933.4(USH2A):c.2653C>T (p.His885Tyr)

SNV
Germline

Chr1:216246741

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome

Criteria Provided
Conflicting Classifications

CA1396195

rs_746071929

11 SubmittersRCV001244238 RCV001075434 RCV001098933 RCV001376385 RCV005010648 RCV005418282

NM_206933.4(USH2A):c.2168-1G>C

SNV
Germline

Chr1:216247227

Pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
Condition: not provided
Hearing impairment
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1396273

rs_748961218

9 SubmittersRCV000672901 RCV001075017 RCV001092379 RCV001526604 RCV001829879 RCV003446334

NM_206933.4(USH2A):c.2167+5G>A

SNV
Germline

Chr1:216250898

Pathogenic/Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome
USH2A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA1396296

rs_771583281

13 SubmittersRCV000667707 RCV001035076 RCV001003280 RCV001073540 RCV001376264 RCV001829844 RCV002509496 RCV004732991

NM_206933.4(USH2A):c.2023C>T (p.Gln675Ter)

SNV
Germline

Chr1:216251047

Pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA37503819

rs_868562952

7 SubmittersRCV000669090 RCV001861774 RCV001727790 RCV003453278 RCV004817887

NM_206933.4(USH2A):c.1040A>G (p.Asp347Gly)

SNV
Germline

Chr1:216325408

Pathogenic/Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1396616

rs_762384558

4 SubmittersRCV000669952 RCV002531241 RCV003472120

NM_206933.4(USH2A):c.1859G>T (p.Cys620Phe)

SNV
Germline

Chr1:216289392

Pathogenic

Usher syndrome type 2A
Usher syndrome
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa 39
USH2A-related disorder

Reviewed By Expert Panel

CA1396372

rs_758571672

9 SubmittersRCV000761343 RCV001171545 RCV001208650 RCV000664581 RCV003472065 RCV004533461

NM_206933.4(USH2A):c.997T>C (p.Ser333Pro)

SNV
Germline

Chr1:216325451

Conflicting classifications of pathogenicity

Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
not specified
Condition: not provided
Retinitis pigmentosa 39
USH2A-related disorder

Criteria Provided
Conflicting Classifications

CA1396626

rs_368986242

7 SubmittersRCV000665398 RCV001074493 RCV002233096 RCV002530654 RCV003465441 RCV004533464

NM_206933.4(USH2A):c.828C>G (p.Tyr276Ter)

SNV
Germline

Chr1:216327611

Pathogenic/Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA344912839

rs_1553250952

7 SubmittersRCV000666765 RCV000760349 RCV001841851 RCV002468596 RCV004817874

NM_206933.4(USH2A):c.538T>C (p.Ser180Pro)

SNV
Germline

Chr1:216418627

Pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Usher syndrome
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344902627

rs_1171672823

7 SubmittersRCV000669584 RCV001058017 RCV001797778 RCV001829859 RCV004568526

NM_206933.4(USH2A):c.1001G>A (p.Arg334Gln)

SNV
Germline

Chr1:216325447

Pathogenic/Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome type 2
Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1396624

rs_758303489

8 SubmittersRCV000667534 RCV001003286 RCV001075062 RCV001382060 RCV001835907 RCV003459585

NM_206933.4(USH2A):c.651+1G>A

SNV
Germline

Chr1:216418513

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Usher syndrome
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344902135

rs_1553257761

4 SubmittersRCV000668857 RCV001054302 RCV001526995 RCV003446301 RCV003446302

NM_206933.4(USH2A):c.449T>A (p.Leu150Ter)

SNV
Germline

Chr1:216421888

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344903763

rs_1553258037

3 SubmittersRCV000672162 RCV002531308 RCV003453344 RCV003453345

NM_206933.4(USH2A):c.187C>T (p.Arg63Ter)

SNV
Germline

Chr1:216422150

Pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1396846

rs_781223647

7 SubmittersRCV000672792 RCV001074678 RCV001037535 RCV001835910 RCV003453356

NM_206933.4(USH2A):c.232T>G (p.Phe78Val)

SNV
Germline

Chr1:216422105

Conflicting classifications of pathogenicity

Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1396832

rs_775094277

6 SubmittersRCV000674232 RCV001830462 RCV001300495 RCV003459644 RCV004817909

NM_174878.3(CLRN1):c.541C>T (p.Gln181Ter)

SNV
Germline

Chr3:150928094

Pathogenic/Likely pathogenic

Usher syndrome type 3
Retinitis pigmentosa 61
Retinitis pigmentosa 61
Usher syndrome type 3A
Usher syndrome type 3A

Criteria Provided
Multiple Submitters
No Conflicts

CA354953098

rs_376155416

4 SubmittersRCV000667382 RCV003465476 RCV005034244 RCV005430562

NM_174878.3(CLRN1):c.40G>T (p.Gly14Ter)

SNV
Unknown

Chr3:150972669

Likely pathogenic

Usher syndrome type 3A

No Assertion Criteria Provided

CA355012178

rs_1553776112

1 SubmittersRCV005430810

NM_174878.3(CLRN1):c.184C>T (p.Gln62Ter)

SNV
Unknown

Chr3:150972525

Likely pathogenic

Usher syndrome type 3A

No Assertion Criteria Provided

CA355011877

rs_1553776052

1 SubmittersRCV005430754

NM_174878.3(CLRN1):c.2T>C (p.Met1Thr)

SNV
Germline

Chr3:150972707

Likely pathogenic

Hearing impairment
Usher syndrome type 3A

Criteria Provided
Single Submitter

CA355012325

rs_1553776135

2 SubmittersRCV001375069 RCV005430692

NM_174878.3(CLRN1):c.3G>A (p.Met1Ile)

SNV
Unknown

Chr3:150972706

Likely pathogenic

Usher syndrome type 3A

No Assertion Criteria Provided

CA355012322

rs_1553776132

1 SubmittersRCV005430586

NM_001384140.1(PCDH15):c.4211+1G>A

SNV
Unknown

Chr10:53828564

Likely pathogenic

Usher syndrome type 1F

No Assertion Criteria Provided

CA376528048

rs_1554823229

1 SubmittersRCV000666836

NM_001384140.1(PCDH15):c.4118C>T (p.Thr1373Ile)

SNV
Germline

Chr10:53831399

Conflicting classifications of pathogenicity

Usher syndrome type 1F
Autosomal recessive nonsyndromic hearing loss 23

Criteria Provided
Conflicting Classifications

CA5505465

rs_756490783

3 SubmittersRCV000671939 RCV004568545

NM_001384140.1(PCDH15):c.3502-2A>G

SNV
Germline

Chr10:53866859

Likely pathogenic

Usher syndrome type 1F
Condition: not provided

Criteria Provided
Single Submitter

CA376518227

rs_1554836566

2 SubmittersRCV000671550 RCV003718277

NM_001384140.1(PCDH15):c.3501+1G>T

SNV
Unknown

Chr10:53903242

Likely pathogenic

Usher syndrome type 1F

No Assertion Criteria Provided

CA376525284

rs_1402893508

1 SubmittersRCV000674150

NM_001384140.1(PCDH15):c.3122+2T>A

SNV
Germline

Chr10:53959730

Likely pathogenic

Usher syndrome type 1F
Condition: not provided

Criteria Provided
Single Submitter

CA376520672

rs_1554882546

2 SubmittersRCV000668350 RCV001378360

NM_001384140.1(PCDH15):c.2751+2T>C

SNV
Germline

Chr10:54020190

Conflicting classifications of pathogenicity

Usher syndrome type 1F
not specified
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 23

Criteria Provided
Conflicting Classifications

CA5505947

rs_754543131

5 SubmittersRCV000668602 RCV000826014 RCV001855503 RCV003472103

NM_001384140.1(PCDH15):c.2052C>A (p.Tyr684Ter)

SNV
Unknown

Chr10:54079370

Likely pathogenic

Usher syndrome type 1F

No Assertion Criteria Provided

CA376520885

rs_1554956088

1 SubmittersRCV000672564

NM_001384140.1(PCDH15):c.1917+2T>C

SNV
Germline

Chr10:54132873

Likely pathogenic

Usher syndrome type 1F
Condition: not provided

Criteria Provided
Single Submitter

CA376514780

rs_1554806149

2 SubmittersRCV000674799 RCV003768014

NM_001384140.1(PCDH15):c.705+1G>A

SNV
Unknown

Chr10:54329595

Likely pathogenic

Usher syndrome type 1F

No Assertion Criteria Provided

CA376541115

rs_1554903842

1 SubmittersRCV000668616

NM_001384140.1(PCDH15):c.145G>T (p.Glu49Ter)

SNV
Germline

Chr10:54527824

Pathogenic

Usher syndrome type 1F
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 23

Criteria Provided
Multiple Submitters
No Conflicts

CA376541403

rs_1168400018

3 SubmittersRCV000670660 RCV003727796 RCV003472126

NM_001384140.1(PCDH15):c.84T>A (p.Tyr28Ter)

SNV
Germline

Chr10:54664179

Likely pathogenic

Usher syndrome type 1F
Usher syndrome type 1D
Usher syndrome type 1F
Autosomal recessive nonsyndromic hearing loss 23

Criteria Provided
Single Submitter

CA376541874

rs_903145299

2 SubmittersRCV000664985 RCV005392267

NM_001384140.1(PCDH15):c.4368-3205G>A

SNV
Unknown

Chr10:53823435

Conflicting classifications of pathogenicity

Usher syndrome type 1F
Condition: not provided

No Assertion Criteria Provided

CA5505309

rs_776152870

2 SubmittersRCV000664969 RCV001355937

NM_001384140.1(PCDH15):c.4211+2T>G

SNV
Germline

Chr10:53828563

Conflicting classifications of pathogenicity

Usher syndrome type 1F
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5505417

rs_753832779

3 SubmittersRCV000667757 RCV000793173

NM_001384140.1(PCDH15):c.2728G>T (p.Ala910Ser)

SNV
Germline

Chr10:54020215

Conflicting classifications of pathogenicity

Usher syndrome type 1F
not specified
Condition: not provided
Usher syndrome type 1D
PCDH15-related disorder
Optic atrophy

Criteria Provided
Conflicting Classifications

CA5505953

rs_139175351

7 SubmittersRCV000665239 RCV000825424 RCV001071361 RCV001810467 RCV004735733 RCV004817867

NM_001384140.1(PCDH15):c.1591C>T (p.Leu531Phe)

SNV
Germline

Chr10:54153293

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Usher syndrome type 1D

Criteria Provided
Conflicting Classifications

CA5506320

rs_750009006

3 SubmittersRCV000945066 RCV001844219 RCV001810479

NM_001384140.1(PCDH15):c.4367+2T>C

SNV
Unknown

Chr10:53827391

Likely pathogenic

Usher syndrome type 1F
Autosomal recessive nonsyndromic hearing loss 23

No Assertion Criteria Provided

CA376527548

rs_1554822703

2 SubmittersRCV000674498 RCV003472171

NM_001384140.1(PCDH15):c.3984-2A>G

SNV
Unknown

Chr10:53831535

Likely pathogenic

Usher syndrome type 1F

No Assertion Criteria Provided

CA376528635

rs_1554824185

1 SubmittersRCV000670875

NM_001384140.1(PCDH15):c.3807-2A>G

SNV
Unknown

Chr10:53840498

Likely pathogenic

Usher syndrome type 1F
Autosomal recessive nonsyndromic hearing loss 23

No Assertion Criteria Provided

CA376529023

rs_1328440878

2 SubmittersRCV000666838 RCV003472082

NM_001384140.1(PCDH15):c.3806+1G>C

SNV
Unknown

Chr10:53857174

Likely pathogenic

Usher syndrome type 1F

No Assertion Criteria Provided

CA376514245

rs_1554833227

1 SubmittersRCV000674273

NM_001384140.1(PCDH15):c.3233-2A>G

SNV
Germline

Chr10:53938957

Likely pathogenic

Usher syndrome type 1F
Condition: not provided

Criteria Provided
Single Submitter

CA376516592

rs_1554872194

2 SubmittersRCV000666101 RCV001855452

NM_001384140.1(PCDH15):c.3806+2T>C

SNV
Germline

Chr10:53857173

Likely pathogenic

Usher syndrome type 1F
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 23
Autosomal recessive nonsyndromic hearing loss 23
Usher syndrome type 1D
Usher syndrome type 1F

Criteria Provided
Multiple Submitters
No Conflicts

CA207179444

rs_756692340

5 SubmittersRCV000673647 RCV001855599 RCV003472159 RCV005046907

NM_001384140.1(PCDH15):c.3374-1G>T

SNV
Unknown

Chr10:53903371

Likely pathogenic

Usher syndrome type 1F

No Assertion Criteria Provided

CA376525991

rs_1554852472

1 SubmittersRCV000674704

NM_001384140.1(PCDH15):c.3123-1G>A

SNV
Unknown

Chr10:53940976

Likely pathogenic

Usher syndrome type 1F

No Assertion Criteria Provided

CA376517840

rs_1554873550

1 SubmittersRCV000665959

NM_001384140.1(PCDH15):c.2869-1G>T

SNV
Germline

Chr10:53961893

Likely pathogenic

Usher syndrome type 1F
Autosomal recessive nonsyndromic hearing loss 23

No Assertion Criteria Provided

CA376522071

rs_1554883705

2 SubmittersRCV000674501 RCV000770853

NM_001384140.1(PCDH15):c.2091+2T>C

SNV
Unknown

Chr10:54079329

Likely pathogenic

Usher syndrome type 1F

No Assertion Criteria Provided

CA376520602

rs_1554956023

1 SubmittersRCV000665400

NM_001384140.1(PCDH15):c.1997+1G>T

SNV
Unknown

Chr10:54089983

Likely pathogenic

Usher syndrome type 1F

No Assertion Criteria Provided

CA376522787

rs_763797356

1 SubmittersRCV000674070

NM_001384140.1(PCDH15):c.1305+1G>C

SNV
Unknown

Chr10:54195682

Likely pathogenic

Usher syndrome type 1F

No Assertion Criteria Provided

CA376518479

rs_758947077

1 SubmittersRCV000670840

NM_001384140.1(PCDH15):c.647T>G (p.Leu216Ter)

SNV
Unknown

Chr10:54329654

Likely pathogenic

Usher syndrome type 1F

No Assertion Criteria Provided

CA376541243

rs_1554903979

1 SubmittersRCV000669594

NM_001384140.1(PCDH15):c.274C>T (p.Gln92Ter)

SNV
Germline

Chr10:54378826

Pathogenic

Usher syndrome type 1F
Retinal dystrophy
Autosomal recessive nonsyndromic hearing loss 23
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA376540495

rs_143842048

4 SubmittersRCV000670777 RCV001073252 RCV001809740 RCV003558511

NM_001384140.1(PCDH15):c.158-2A>T

SNV
Germline

Chr10:54378944

Pathogenic/Likely pathogenic

Usher syndrome type 1F
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 23

Criteria Provided
Multiple Submitters
No Conflicts

CA376540750

rs_1304228309

5 SubmittersRCV000672062 RCV001212804 RCV003472143

NM_001384140.1(PCDH15):c.1A>G (p.Met1Val)

SNV
Germline

Chr10:54664262

Conflicting classifications of pathogenicity

Usher syndrome type 1F
Condition: not provided
not specified
Autosomal recessive nonsyndromic hearing loss 23
Usher syndrome type 1D
Usher syndrome type 1F

Criteria Provided
Conflicting Classifications

CA207620760

rs_1040514625

5 SubmittersRCV000667761 RCV001295433 RCV004689838 RCV005049640

NM_153676.4(USH1C):c.2381-2A>G

SNV
Unknown

Chr11:17498273

Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 18A
Usher syndrome type 1C

No Assertion Criteria Provided

CA379801491

rs_1465352266

1 SubmittersRCV000673327

NM_153676.4(USH1C):c.2227-1G>T

SNV
Germline

Chr11:17501536

Pathogenic/Likely pathogenic

Usher syndrome type 1C
Autosomal recessive nonsyndromic hearing loss 18A
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 18A

Criteria Provided
Multiple Submitters
No Conflicts

CA379803666

rs_778110397

4 SubmittersRCV000666443 RCV001868213 RCV003459578

NM_153676.4(USH1C):c.760-1G>T

SNV
Germline

Chr11:17523479

Likely pathogenic

Usher syndrome type 1C
Autosomal recessive nonsyndromic hearing loss 18A
Autosomal recessive nonsyndromic hearing loss 18A
Condition: not provided

Criteria Provided
Single Submitter

CA379790381

rs_1187887456

3 SubmittersRCV000669103 RCV003459605 RCV005091939

NM_153676.4(USH1C):c.674+2T>G

SNV
Germline

Chr11:17526345

Pathogenic

Usher syndrome type 1C
Autosomal recessive nonsyndromic hearing loss 18A
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 18A

Criteria Provided
Multiple Submitters
No Conflicts

CA379793088

rs_1298596518

3 SubmittersRCV000669773 RCV001855529 RCV004568531

NM_153676.4(USH1C):c.672C>A (p.Cys224Ter)

SNV
Germline

Chr11:17526349

Pathogenic

Autosomal recessive nonsyndromic hearing loss 18A
Usher syndrome type 1C
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 18A

Criteria Provided
Multiple Submitters
No Conflicts

CA379793132

rs_1223763703

4 SubmittersRCV000672382 RCV001055312 RCV003459636

NM_153676.4(USH1C):c.2487C>T (p.Gly829=)

SNV
Germline

Chr11:17498165

Conflicting classifications of pathogenicity

Usher syndrome type 1C
Autosomal recessive nonsyndromic hearing loss 18A
Usher syndrome type 1C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5904153

rs_142801489

4 SubmittersRCV001108479 RCV000673137 RCV000898027

NM_153676.4(USH1C):c.1020-2A>C

SNV
Germline

Chr11:17521413

Likely pathogenic

Usher syndrome type 1C
Autosomal recessive nonsyndromic hearing loss 18A
Condition: not provided
Usher syndrome type 1C
Autosomal recessive nonsyndromic hearing loss 18A

Criteria Provided
Single Submitter

CA5904742

rs_147956944

4 SubmittersRCV000666800 RCV001049314 RCV001273250 RCV003465455

NM_153676.4(USH1C):c.496+1G>T

SNV
Germline

Chr11:17527222

Pathogenic

Autosomal recessive nonsyndromic hearing loss 18A
Usher syndrome type 1C
Condition: not provided
Usher syndrome type 1C
Autosomal recessive nonsyndromic hearing loss 18A
Usher syndrome type 1
Usher syndrome type 1C
Autosomal recessive nonsyndromic hearing loss 18A
USH1C-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA5905032

rs_138138689

10 SubmittersRCV000666962 RCV001090231 RCV001829837 RCV002499156 RCV003465458 RCV004756004

NM_153676.4(USH1C):c.248+1G>A

SNV
Germline

Chr11:17531398

Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 18A
Usher syndrome type 1C
Condition: not provided
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA379797643

rs_1482487617

3 SubmittersRCV000671298 RCV001855556 RCV004768539

NM_153676.4(USH1C):c.1A>G (p.Met1Val)

SNV
Unknown

Chr11:17544307

Likely pathogenic

Usher syndrome type 1C
Autosomal recessive nonsyndromic hearing loss 18A

No Assertion Criteria Provided

CA379805399

rs_1554965967

1 SubmittersRCV000669702

NM_153676.4(USH1C):c.2281-1G>A

SNV
Unknown

Chr11:17501151

Likely pathogenic

Usher syndrome type 1C
Autosomal recessive nonsyndromic hearing loss 18A

No Assertion Criteria Provided

CA379803247

rs_1554954574

1 SubmittersRCV000668048

NM_000260.4(MYO7A):c.19-2A>G

SNV
Unknown

Chr11:77142707

Pathogenic

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1

No Assertion Criteria Provided

CA381947446

rs_1555051384

1 SubmittersRCV000674972

NM_000260.4(MYO7A):c.47T>A (p.Leu16Ter)

SNV
Germline

Chr11:77142737

Pathogenic

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Retinal dystrophy
Condition: not provided
Usher syndrome type 1B

Criteria Provided
Multiple Submitters
No Conflicts

CA6197010

rs_1052030

4 SubmittersRCV000664572 RCV004817863 RCV000813222 RCV005606684

NM_153676.4(USH1C):c.877-1G>A

SNV
Germline

Chr11:17522927

Pathogenic

Usher syndrome type 1C
Autosomal recessive nonsyndromic hearing loss 18A
Autosomal recessive nonsyndromic hearing loss 18A
Condition: not provided

Criteria Provided
Single Submitter

CA5904802

rs_771279169

3 SubmittersRCV000669286 RCV003465491 RCV005091942

NM_000260.4(MYO7A):c.133-2A>C

SNV
Unknown

Chr11:77147796

Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1

No Assertion Criteria Provided

CA381928508

rs_782064437

1 SubmittersRCV000671042

NM_153676.4(USH1C):c.819+1G>A

SNV
Unknown

Chr11:17523418

Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 18A
Usher syndrome type 1C

No Assertion Criteria Provided

CA379789325

rs_1554961152

1 SubmittersRCV000674242

NM_000260.4(MYO7A):c.397C>G (p.His133Asp)

SNV
Germline

Chr11:77156018

Pathogenic

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided

Criteria Provided
Single Submitter

CA381931480

rs_111033403

2 SubmittersRCV000667248 RCV002530709

NM_000260.4(MYO7A):c.1183C>T (p.Arg395Cys)

SNV
Germline

Chr11:77160265

Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Usher syndrome type 1B
Condition: not provided
Hearing loss, autosomal recessive
Nonsyndromic genetic hearing loss
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1

Reviewed By Expert Panel

CA6197402

rs_782279338

6 SubmittersRCV000670895 RCV001829868 RCV001067075 RCV001291468 RCV001261013 RCV002485553

NM_153676.4(USH1C):c.579+1G>C

SNV
Germline

Chr11:17526752

Pathogenic

Usher syndrome type 1C
Autosomal recessive nonsyndromic hearing loss 18A
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 18A

Criteria Provided
Multiple Submitters
No Conflicts

CA379794066

rs_1283092935

5 SubmittersRCV000666602 RCV001067026 RCV003459582

NM_000260.4(MYO7A):c.1189G>A (p.Ala397Thr)

SNV
Germline

Chr11:77160271

Pathogenic/Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA381934653

rs_1297886521

4 SubmittersRCV000669802 RCV001868236 RCV005010660

NM_153676.4(USH1C):c.311G>A (p.Gly104Asp)

SNV
Germline

Chr11:17531230

Likely pathogenic

Usher syndrome type 1C
Autosomal recessive nonsyndromic hearing loss 18A
Usher syndrome type 1
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 18A

Criteria Provided
Multiple Submitters
No Conflicts

CA379797120

rs_1317951509

4 SubmittersRCV000669659 RCV001004554 RCV002531234 RCV004568529

NM_000260.4(MYO7A):c.1591C>T (p.Gln531Ter)

SNV
Germline

Chr11:77162889

Pathogenic

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Hearing loss, autosomal recessive
Condition: not provided

Criteria Provided
Single Submitter

CA6197526

rs_781951909

3 SubmittersRCV000668486 RCV001291470 RCV002531200

NM_000260.4(MYO7A):c.1691-2A>G

SNV
Unknown

Chr11:77166054

Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1

No Assertion Criteria Provided

CA381936854

rs_1555072299

1 SubmittersRCV000672185

NM_000260.4(MYO7A):c.3502C>T (p.Arg1168Trp)

SNV
Germline

Chr11:77184714

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided
Hearing loss, autosomal recessive
Autosomal dominant nonsyndromic hearing loss 11
MYO7A-related disorder
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11

Criteria Provided
Conflicting Classifications

CA6198073

rs_554073390

7 SubmittersRCV000668846 RCV001242948 RCV001291475 RCV000790513 RCV004535682 RCV005004337

NM_000260.4(MYO7A):c.5065G>A (p.Asp1689Asn)

SNV
Germline

Chr11:77202321

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11

Criteria Provided
Conflicting Classifications

CA6198614

rs_544639673

5 SubmittersRCV000665822 RCV002532047 RCV002493086

NM_000260.4(MYO7A):c.5481-1G>C

SNV
Unknown

Chr11:77205461

Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1

No Assertion Criteria Provided

CA381952830

rs_1555105118

1 SubmittersRCV000667676

NM_000260.4(MYO7A):c.5510T>C (p.Leu1837Pro)

SNV
Germline

Chr11:77205491

Pathogenic/Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA381952898

rs_1385324903

6 SubmittersRCV000669072 RCV001855514 RCV001334338 RCV003155267 RCV003152610 RCV005407865

NM_153676.4(USH1C):c.2490+2T>C

SNV
Unknown

Chr11:17498160

Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 18A
Usher syndrome type 1C

No Assertion Criteria Provided

CA379800220

rs_1554953745

1 SubmittersRCV000672856

NM_153676.4(USH1C):c.2490+1G>T

SNV
Germline

Chr11:17498161

Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 18A
Usher syndrome type 1C
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA379800229

rs_1554953746

3 SubmittersRCV000674078 RCV001861833

NM_153676.4(USH1C):c.2281-2A>G

SNV
Unknown

Chr11:17501152

Likely pathogenic

Usher syndrome type 1C
Autosomal recessive nonsyndromic hearing loss 18A
Autosomal recessive nonsyndromic hearing loss 18A

Criteria Provided
Single Submitter

CA218486553

rs_921755529

2 SubmittersRCV000668530 RCV004568517

NM_153676.4(USH1C):c.2280+2T>C

SNV
Germline

Chr11:17501480

Likely pathogenic

Usher syndrome type 1C
Autosomal recessive nonsyndromic hearing loss 18A
Condition: not provided

Criteria Provided
Single Submitter

CA379803283

rs_1554954681

2 SubmittersRCV000669682 RCV005091946

NM_153676.4(USH1C):c.2185-2A>G

SNV
Unknown

Chr11:17501982

Likely pathogenic

Usher syndrome type 1C
Autosomal recessive nonsyndromic hearing loss 18A

No Assertion Criteria Provided

CA379804159

rs_1358056232

1 SubmittersRCV000669950

NM_153676.4(USH1C):c.2041C>T (p.Arg681Ter)

SNV
Germline

Chr11:17505922

Conflicting classifications of pathogenicity

Usher syndrome type 1C
Autosomal recessive nonsyndromic hearing loss 18A
Condition: not provided
Usher syndrome type 1C

Criteria Provided
Conflicting Classifications

CA5904370

rs_369369849

4 SubmittersRCV000664966 RCV001397163 RCV004568486

NM_000260.4(MYO7A):c.3G>A (p.Met1Ile)

SNV
Germline

Chr11:77130637

Pathogenic/Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided
Meniere disease
Usher syndrome type 1B
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA6196971

rs_782787126

5 SubmittersRCV000668632 RCV001203639 RCV001526681 RCV001829848 RCV005004336

NM_000260.4(MYO7A):c.133-2A>G

SNV
Germline

Chr11:77147796

Pathogenic/Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 2
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided
Usher syndrome type 1B
MYO7A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA6197056

rs_782064437

7 SubmittersRCV000012628 RCV000671659 RCV001383043 RCV001830451 RCV004527727

NM_000260.4(MYO7A):c.285+2T>G

SNV
Germline

Chr11:77147952

Pathogenic

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided
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

Criteria Provided
Multiple Submitters
No Conflicts

CA381929504

rs_782292032

6 SubmittersRCV000669696 RCV000823085 RCV001003079 RCV002485549 RCV004698347

NM_153676.4(USH1C):c.674+1G>A

SNV
Germline

Chr11:17526346

Pathogenic/Likely pathogenic

Usher syndrome type 1C
Autosomal recessive nonsyndromic hearing loss 18A
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 18A

Criteria Provided
Multiple Submitters
No Conflicts

CA379793102

rs_775496999

3 SubmittersRCV000668959 RCV001855510 RCV003459604

NM_000260.4(MYO7A):c.487G>A (p.Gly163Arg)

SNV
Germline

Chr11:77156676

Pathogenic/Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided
Usher syndrome
Retinal dystrophy
Usher syndrome type 1B
Usher syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA381931767

rs_1472566324

9 SubmittersRCV000668444 RCV001378983 RCV003235337 RCV004794433 RCV001835089 RCV003106015

NM_153676.4(USH1C):c.104+1G>A

SNV
Germline

Chr11:17533254

Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 18A
Usher syndrome type 1C
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA379800254

rs_1287021691

4 SubmittersRCV000671948 RCV001057158

NM_000260.4(MYO7A):c.1348G>C (p.Glu450Gln)

SNV
Germline

Chr11:77162124

Pathogenic/Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA381935196

rs_1269622956

4 SubmittersRCV000670043 RCV001543540 RCV005004339

NM_000260.4(MYO7A):c.1935+1G>C

SNV
Unknown

Chr11:77172886

Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1

No Assertion Criteria Provided

CA381938640

rs_1343207038

1 SubmittersRCV000665847

NM_000260.4(MYO7A):c.2878G>T (p.Glu960Ter)

SNV
Germline

Chr11:77181563

Pathogenic

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided

Criteria Provided
Single Submitter

CA6197946

rs_782131913

2 SubmittersRCV000669350 RCV001861776

NM_000260.4(MYO7A):c.3504-1G>C

SNV
Germline

Chr11:77189343

Pathogenic

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA381946816

rs_1555090171

4 SubmittersRCV000670122 RCV001855536 RCV005004341

NM_000260.4(MYO7A):c.3576G>A (p.Trp1192Ter)

SNV
Germline

Chr11:77189416

Pathogenic

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2
Condition: not provided
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA381946975

rs_1253943370

4 SubmittersRCV000665547 RCV000770843 RCV001868204 RCV005004326

NM_000260.4(MYO7A):c.3689G>A (p.Arg1230His)

SNV
Germline

Chr11:77190078

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Usher syndrome type 1B
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA6198172

rs_368705036

6 SubmittersRCV000667036 RCV001829841 RCV002507155 RCV001240019 RCV004817875

NM_000260.4(MYO7A):c.4117C>T (p.Arg1373Ter)

SNV
Germline

Chr11:77192243

Pathogenic

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided
Usher syndrome type 1B
Usher syndrome
Usher syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA6198319

rs_766641715

10 SubmittersRCV000666120 RCV000763282 RCV001038543 RCV001835074 RCV003389476 RCV004764795

NM_000260.4(MYO7A):c.4569-1G>A

SNV
Germline

Chr11:77199534

Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided

Criteria Provided
Single Submitter

CA6198499

rs_775792432

2 SubmittersRCV000674728 RCV001861848

NM_000260.4(MYO7A):c.5507T>C (p.Leu1836Pro)

SNV
Germline

Chr11:77205488

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA381952892

rs_1164918878

3 SubmittersRCV000668455 RCV003558497 RCV005056409

NM_000260.4(MYO7A):c.5581C>T (p.Arg1861Ter)

SNV
Germline

Chr11:77205562

Pathogenic

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Usher syndrome type 1B
Usher syndrome type 1
Condition: not provided
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA224853945

rs_878864531

7 SubmittersRCV000673133 RCV001835911 RCV001003089 RCV001381202 RCV002507176

NM_000260.4(MYO7A):c.5857-2A>G

SNV
Germline

Chr11:77208428

Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided

Criteria Provided
Single Submitter

CA381932457

rs_1555107286

2 SubmittersRCV000671897 RCV002531298

NM_000260.4(MYO7A):c.6051+1G>A

SNV
Germline

Chr11:77208804

Pathogenic

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided

Criteria Provided
Single Submitter

CA381934774

rs_1403288739

2 SubmittersRCV000674779 RCV001228076

NM_000260.4(MYO7A):c.471-1G>A

SNV
Germline

Chr11:77156659

Pathogenic/Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA6197153

rs_548172627

4 SubmittersRCV000673992 RCV001868273 RCV004554819 RCV004796273

NM_000260.4(MYO7A):c.616C>T (p.Arg206Cys)

SNV
Germline

Chr11:77156885

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
not specified
Usher syndrome type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6197203

rs_782361954

4 SubmittersRCV000665969 RCV004702281 RCV003989576 RCV001855449

NM_000260.4(MYO7A):c.1142C>T (p.Thr381Met)

SNV
Germline

Chr11:77160224

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA6197395

rs_782681743

4 SubmittersRCV000667999 RCV001111949 RCV001112401 RCV001111948 RCV002530732 RCV003323668

NM_000260.4(MYO7A):c.1190C>A (p.Ala397Asp)

SNV
Germline

Chr11:77160272

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome type 1
Retinal dystrophy
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11

Criteria Provided
Multiple Submitters
No Conflicts

CA381934657

rs_1555067667

6 SubmittersRCV000812299 RCV001810472 RCV001075552 RCV002477494

NM_000260.4(MYO7A):c.1343+1G>A

SNV
Unknown

Chr11:77161116

Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1

No Assertion Criteria Provided

CA224830967

rs_914189193

1 SubmittersRCV000664858

NM_000260.4(MYO7A):c.1798-1G>A

SNV
Germline

Chr11:77172747

Pathogenic

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided
Usher syndrome type 1B

Criteria Provided
Single Submitter

CA381938131

rs_1555076948

3 SubmittersRCV000674069 RCV001379546 RCV005606697

NM_000260.4(MYO7A):c.2461C>T (p.Gln821Ter)

SNV
Germline

Chr11:77179828

Pathogenic

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided

Criteria Provided
Single Submitter

CA381941695

rs_1279918132

2 SubmittersRCV000664644 RCV001861737

NM_000260.4(MYO7A):c.3594C>A (p.Cys1198Ter)

SNV
Germline

Chr11:77189434

Pathogenic

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1

Criteria Provided
Single Submitter

CA6198121

rs_782694195

2 SubmittersRCV000671459 RCV002499178

NM_000260.4(MYO7A):c.3610C>A (p.Pro1204Thr)

SNV
Germline

Chr11:77189450

Pathogenic/Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA381947041

rs_1555090442

3 SubmittersRCV000672010 RCV001245615 RCV002485557

NM_000260.4(MYO7A):c.3631-1G>C

SNV
Germline

Chr11:77190019

Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided

Criteria Provided
Single Submitter

CA381947101

rs_1555090885

2 SubmittersRCV000671701 RCV001236089

NM_000260.4(MYO7A):c.5168+2T>C

SNV
Germline

Chr11:77202426

Pathogenic

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided

Criteria Provided
Single Submitter

CA381951918

rs_1192104600

2 SubmittersRCV000674217 RCV001206652

NM_000260.4(MYO7A):c.5177C>T (p.Pro1726Leu)

SNV
Germline

Chr11:77203068

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11

Criteria Provided
Conflicting Classifications

CA381951992

rs_1478464275

5 SubmittersRCV000671432 RCV001531118 RCV005004344

NM_000260.4(MYO7A):c.5856G>A (p.Lys1952=)

SNV
Germline

Chr11:77207402

Pathogenic/Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA475797351

rs_1453053718

3 SubmittersRCV000672578 RCV001242938

NM_000260.4(MYO7A):c.6238-2A>C

SNV
Germline

Chr11:77211819

Pathogenic

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided

Criteria Provided
Single Submitter

CA381936422

rs_1555109612

2 SubmittersRCV000666730 RCV001855465

NM_000260.4(MYO7A):c.6321G>A (p.Trp2107Ter)

SNV
Germline

Chr11:77211904

Pathogenic

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided

Criteria Provided
Single Submitter

CA224828482

rs_773945008

2 SubmittersRCV000667049 RCV001855473

NM_000260.4(MYO7A):c.18+2T>A

SNV
Germline

Chr11:77130654

Pathogenic

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided

Criteria Provided
Single Submitter

CA6196972

rs_564622720

2 SubmittersRCV000674636 RCV001855611

NM_000260.4(MYO7A):c.2361C>A (p.Tyr787Ter)

SNV
Unknown

Chr11:77179123

Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1

No Assertion Criteria Provided

CA381941077

rs_1555082145

1 SubmittersRCV000670160

NM_000260.4(MYO7A):c.3298G>T (p.Glu1100Ter)

SNV
Germline

Chr11:77183080

Pathogenic/Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA6198028

rs_782468194

3 SubmittersRCV000673801 RCV001855603 RCV005004352

NM_000260.4(MYO7A):c.3310A>T (p.Lys1104Ter)

SNV
Unknown

Chr11:77183092

Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1

No Assertion Criteria Provided

CA381945489

rs_1555085978

1 SubmittersRCV000673719

NM_000260.4(MYO7A):c.3504-2A>G

SNV
Unknown

Chr11:77189342

Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1

No Assertion Criteria Provided

CA381946813

rs_1555090168

1 SubmittersRCV000673745

NM_000260.4(MYO7A):c.3924+1G>C

SNV
Germline

Chr11:77190871

Pathogenic

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA381947997

rs_1226046110

4 SubmittersRCV000674211 RCV001385690 RCV005010670

NM_000260.4(MYO7A):c.5043+1G>T

SNV
Germline

Chr11:77201639

Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided

Criteria Provided
Single Submitter

CA381951495

rs_1555102147

2 SubmittersRCV000673825 RCV002532154

NM_000260.4(MYO7A):c.5945-1G>A

SNV
Germline

Chr11:77208696

Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided

Criteria Provided
Single Submitter

CA381933984

rs_1268984037

2 SubmittersRCV000673408 RCV001041885

NM_000260.4(MYO7A):c.6028G>A (p.Asp2010Asn)

SNV
Germline

Chr11:77208780

Pathogenic/Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided
Usher syndrome type 1B

Criteria Provided
Multiple Submitters
No Conflicts

CA6198904

rs_755934966

7 SubmittersRCV000666616 RCV000763284 RCV001239645 RCV001835077

NM_206933.4(USH2A):c.7501C>T (p.Gln2501Ter)

SNV
Germline

Chr1:215900168

Pathogenic

Usher syndrome type 2A
Ear malformation
Retinitis pigmentosa 39
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA344848462

rs_1558151555

4 SubmittersRCV000678655 RCV001814216 RCV003459648 RCV003558534

NM_206933.4(USH2A):c.6722C>T (p.Pro2241Leu)

SNV
Germline

Chr1:215993103

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 39
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA344860455

rs_1057518826

8 SubmittersRCV000678653 RCV001042036 RCV001724131 RCV002283505 RCV002469254

NM_006017.3(PROM1):c.1462G>T (p.Gly488Ter)

SNV
Unknown

Chr4:16000612

Pathogenic

Usher syndrome

No Assertion Criteria Provided

CA356433468

rs_1560449207

1 SubmittersRCV000678600

NM_206933.4(USH2A):c.3661C>T (p.Gln1221Ter)

SNV
Germline

Chr1:216199777

Pathogenic

Deafness
Hearing loss, autosomal recessive
Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA1395949

rs_767797828

6 SubmittersRCV000679847 RCV001291497 RCV005010672 RCV001068678 RCV003459653 RCV005240456

NM_000260.4(MYO7A):c.3364C>A (p.Leu1122Ile)

SNV
Germline

Chr11:77183146

Conflicting classifications of pathogenicity

Deafness
Hearing loss, autosomal recessive
Condition: not provided
not specified
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2

Criteria Provided
Conflicting Classifications

CA6198033

rs_192378817

6 SubmittersRCV000679824 RCV001291474 RCV001771924 RCV003235344 RCV002485569

NM_173477.5(USH1G):c.511G>T (p.Glu171Ter)

SNV
Germline

Chr17:74920325

Pathogenic

Deafness
Usher syndrome type 1G
Hearing loss, autosomal recessive

Criteria Provided
Single Submitter

CA8754056

rs_201866631

3 SubmittersRCV000679846 RCV001002707 RCV001291495

NM_206933.4(USH2A):c.12151G>T (p.Glu4051Ter)

SNV
Germline

Chr1:215680292

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA344816473

rs_1262416703

4 SubmittersRCV000680443 RCV003465549 RCV001383777

NM_000260.4(MYO7A):c.4006C>T (p.Gln1336Ter)

SNV
Germline

Chr11:77192132

Pathogenic/Likely pathogenic

Usher syndrome type 1B
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA6198284

rs_750647872

4 SubmittersRCV000680440 RCV000763281 RCV001214311

NM_032119.4(ADGRV1):c.1055C>T (p.Pro352Leu)

SNV
Germline

Chr5:90627593

Pathogenic/Likely pathogenic

Autosomal recessive sensorineural hearing loss
Hearing loss, autosomal recessive
Condition: not provided
Febrile seizures, familial, 4
Usher syndrome
Febrile seizures, familial, 4
Usher syndrome type 2C

Criteria Provided
Multiple Submitters
No Conflicts

CA3338603

rs_765574676

6 SubmittersRCV000681534 RCV001291205 RCV002544706 RCV003989579 RCV004689852 RCV005034287

NM_000260.4(MYO7A):c.20G>T (p.Gly7Val)

SNV
Germline

Chr11:77142710

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 2
Hearing loss, autosomal recessive
Condition: not provided
Intellectual disability
Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1
Usher syndrome

Criteria Provided
Conflicting Classifications

CA6197007

rs_781989117

6 SubmittersRCV000681538 RCV001291461 RCV001212886 RCV005622000 RCV005010673 RCV005407878

NM_002109.6(HARS1):c.679T>G (p.Ser227Ala)

SNV
Germline

Chr5:140677705

Conflicting classifications of pathogenicity

Usher syndrome type 3B
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3444024

rs_768076848

4 SubmittersRCV000699134 RCV001000572 RCV001756220

NM_002109.6(HARS1):c.1372G>A (p.Ala458Thr)

SNV
Germline

Chr5:140674765

Conflicting classifications of pathogenicity

Usher syndrome type 3B
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA128376664

rs_891844407

3 SubmittersRCV000701574 RCV000825171 RCV001775975

NM_002109.6(HARS1):c.203G>A (p.Arg68Gln)

SNV
Germline

Chr5:140683197

Conflicting classifications of pathogenicity

Usher syndrome type 3B
not specified

Criteria Provided
Conflicting Classifications

CA3444166

rs_753788498

2 SubmittersRCV000684911 RCV004026177

NM_001267727.2(ARSG):c.133G>T (p.Asp45Tyr)

SNV
Germline

Chr17:68307626

Pathogenic

Usher syndrome, type 4
Usher syndrome

No Assertion Criteria Provided

CA400746189

rs_1568445893

2 SubmittersRCV000710003 RCV001002872

NM_022124.6(CDH23):c.945+1G>A

SNV
Germline

Chr10:71615617

Pathogenic

Usher syndrome type 1D
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA377121557

rs_727502919

2 SubmittersRCV000710061 RCV001060165

NM_022124.6(CDH23):c.4210-2A>G

SNV
Germline

Chr10:71738496

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 84A
Usher syndrome type 1D
Condition: not provided
Pituitary adenoma 5, multiple types
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5544987

rs_557620034

5 SubmittersRCV000710062 RCV003141715 RCV003472256 RCV004026789

NM_206933.4(USH2A):c.11189A>G (p.Glu3730Gly)

SNV
Germline

Chr1:215759702

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA344822612

rs_1341032857

3 SubmittersRCV000728054 RCV002280784

NM_032119.4(ADGRV1):c.16325G>A (p.Gly5442Asp)

SNV
Germline

Chr5:90823553

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3342116

rs_376505416

5 SubmittersRCV000729117 RCV001157636 RCV002533099

NM_032119.4(ADGRV1):c.10149C>T (p.Ser3383=)

SNV
Germline

Chr5:90725644

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Usher syndrome type 2C
ADGRV1-related disorder

Criteria Provided
Conflicting Classifications

CA3340674

rs_376298949

7 SubmittersRCV000731855 RCV000825099 RCV001152995 RCV004547931

NM_022124.6(CDH23):c.3927G>A (p.Glu1309=)

SNV
Germline

Chr10:71732198

Conflicting classifications of pathogenicity

Usher syndrome type 1
Condition: not provided
CDH23-related disorder

Criteria Provided
Conflicting Classifications

CA5544870

rs_115398922

5 SubmittersRCV001273539 RCV000732329 RCV004540064

NM_032119.4(ADGRV1):c.12464C>T (p.Pro4155Leu)

SNV
Germline

Chr5:90776513

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2C
Febrile seizures, familial, 4
Usher syndrome type 2C

Criteria Provided
Conflicting Classifications

CA3341249

rs_765063091

5 SubmittersRCV000732354 RCV001157415 RCV002477712

NM_206933.4(USH2A):c.4016T>G (p.Val1339Gly)

SNV
Germline

Chr1:216198380

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
Usher syndrome type 2A
Usher syndrome type 2
Inborn genetic diseases
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA1395854

rs_781668118

8 SubmittersRCV000734013 RCV001075084 RCV001825481 RCV002307609 RCV002535362 RCV005010743

NM_206933.4(USH2A):c.9372-1G>A

SNV
Germline

Chr1:215817196

Pathogenic

Usher syndrome type 2A

No Assertion Criteria Provided

CA344825524

rs_1558111861

1 SubmittersRCV000735748

NM_032119.4(ADGRV1):c.3203G>A (p.Arg1068Lys)

SNV
Germline

Chr5:90647678

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3339122

rs_202151375

3 SubmittersRCV000735734 RCV001218072 RCV002535436

NM_032119.4(ADGRV1):c.11122-1G>C

SNV
Germline

Chr5:90753573

Pathogenic

Usher syndrome type 2C

No Assertion Criteria Provided

CA360364360

rs_1561660434

1 SubmittersRCV000735713

NM_022124.6(CDH23):c.6000C>A (p.Tyr2000Ter)

SNV
Germline

Chr10:71790364

Pathogenic

Usher syndrome type 1D

No Assertion Criteria Provided

CA377150887

rs_1564794944

1 SubmittersRCV000735678

NM_032119.4(ADGRV1):c.596G>T (p.Ser199Ile)

SNV
Germline

Chr5:90625167

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2C
Inborn genetic diseases
ADGRV1-related disorder

Criteria Provided
Conflicting Classifications

CA3338512

rs_61745496

5 SubmittersRCV000755794 RCV001154052 RCV001267529 RCV004547946

NM_022124.6(CDH23):c.982G>A (p.Ala328Thr)

SNV
Germline

Chr10:71617241

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Pituitary adenoma 5, multiple types
Pituitary adenoma 5, multiple types
CDH23-related disorder

Criteria Provided
Conflicting Classifications

CA5543616

rs_374545987

9 SubmittersRCV000755904 RCV001108342 RCV001108343 RCV001275419 RCV002493374 RCV003472273 RCV004527770

NM_022124.6(CDH23):c.3016G>A (p.Glu1006Lys)

SNV
Germline

Chr10:71706959

Pathogenic/Likely pathogenic

Condition: not provided
Rare genetic deafness
Usher syndrome type 1
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Pituitary adenoma 5, multiple types
Pituitary adenoma 5, multiple types
CDH23-related disorder
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA5544423

rs_745571683

11 SubmittersRCV000755910 RCV000825513 RCV001271858 RCV002470968 RCV002507320 RCV003472275 RCV003596546 RCV005240529

NM_022124.6(CDH23):c.6083A>C (p.Asp2028Ala)

SNV
Germline

Chr10:71791165

Pathogenic/Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 12
Hearing loss, autosomal recessive
Condition: not provided
Usher syndrome
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Pituitary adenoma 5, multiple types

Criteria Provided
Multiple Submitters
No Conflicts

CA5545994

rs_762226905

5 SubmittersRCV000761609 RCV001291216 RCV001869030 RCV002265874 RCV005049679

NM_206933.4(USH2A):c.15089C>A (p.Ser5030Ter)

SNV
Germline

Chr1:215634667

Pathogenic

Condition: not provided
Retinal dystrophy
Usher syndrome
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1392795

rs_758660532

7 SubmittersRCV000760346 RCV001074647 RCV003324534 RCV001825506 RCV003453567

NM_206933.4(USH2A):c.11065C>T (p.Arg3689Ter)

SNV
Germline

Chr1:215759826

Pathogenic

Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA37426064

rs_41314534

5 SubmittersRCV000760347 RCV003461016 RCV003453568

NM_206933.4(USH2A):c.7999G>T (p.Glu2667Ter)

SNV
Germline

Chr1:215888650

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344839280

rs_1301139848

4 SubmittersRCV000760647 RCV004569425 RCV003453570

NM_206933.4(USH2A):c.2293C>T (p.Gln765Ter)

SNV
Germline

Chr1:216247101

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344865218

rs_777629750

4 SubmittersRCV000760648 RCV003453571 RCV003453572

NM_022124.6(CDH23):c.2425G>T (p.Glu809Ter)

SNV
Germline

Chr10:71702049

Pathogenic

Condition: not provided
Usher syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA209451917

rs_1039517349

3 SubmittersRCV000760395 RCV001825507

NM_022124.6(CDH23):c.8803C>T (p.Arg2935Ter)

SNV
Germline

Chr10:71809900

Pathogenic

Condition: not provided
Usher syndrome type 1
Retinal dystrophy
Pituitary adenoma 5, multiple types

Criteria Provided
Multiple Submitters
No Conflicts

CA377133251

rs_1190307769

6 SubmittersRCV000760396 RCV001276921 RCV001075279 RCV003472282

NM_000260.4(MYO7A):c.6230G>A (p.Trp2077Ter)

SNV
Germline

Chr11:77211330

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11

Criteria Provided
Multiple Submitters
No Conflicts

CA6198955

rs_776930594

3 SubmittersRCV000760715 RCV005004404

NM_007186.6(CEP250):c.3463C>T (p.Arg1155Ter)

SNV
Germline

Chr20:35497875

Pathogenic/Likely pathogenic

Cone-rod dystrophy and hearing loss 2
Usher syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA9833471

rs_749314857

4 SubmittersRCV000761198 RCV001002934 RCV005092191

NM_000260.4(MYO7A):c.5494C>A (p.Arg1832=)

SNV
Germline

Chr11:77205475

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1B
not specified

Criteria Provided
Conflicting Classifications

CA6198732

rs_748080151

6 SubmittersRCV000761795 RCV001272813 RCV001700303

NM_032119.4(ADGRV1):c.2320G>T (p.Gly774Ter)

SNV
Germline

Chr5:90642715

Pathogenic

Usher syndrome type 2C

No Assertion Criteria Provided

CA360387455

rs_1561441451

1 SubmittersRCV000770805

NM_032119.4(ADGRV1):c.7885G>T (p.Gly2629Ter)

SNV
Germline

Chr5:90694641

Pathogenic

Usher syndrome type 2C

No Assertion Criteria Provided

CA360382261

rs_1561543496

1 SubmittersRCV000770808

NM_032119.4(ADGRV1):c.16114G>T (p.Glu5372Ter)

SNV
Germline

Chr5:90815654

Pathogenic

Usher syndrome type 2C

No Assertion Criteria Provided

CA360412426

rs_377650415

1 SubmittersRCV000770806

NM_032119.4(ADGRV1):c.16129G>T (p.Gly5377Ter)

SNV
Germline

Chr5:90815669

Likely pathogenic

Usher syndrome type 2C

No Assertion Criteria Provided

CA360412516

rs_1561790371

1 SubmittersRCV000770810

NM_032119.4(ADGRV1):c.17200G>T (p.Glu5734Ter)

SNV
Germline

Chr5:90848817

Pathogenic

Usher syndrome type 2C

No Assertion Criteria Provided

CA360429813

rs_1561843914

1 SubmittersRCV000770807

NM_022124.6(CDH23):c.8920G>T (p.Glu2974Ter)

SNV
Germline

Chr10:71810017

Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 12
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Pituitary adenoma 5, multiple types

Criteria Provided
Single Submitter

CA377133806

rs_1344509500

2 SubmittersRCV000770813 RCV002493408

NM_173477.5(USH1G):c.1060G>T (p.Asp354Tyr)

SNV
Germline

Chr17:74919776

Pathogenic

Usher syndrome type 1G

No Assertion Criteria Provided

CA400961901

rs_1316299165

1 SubmittersRCV000770886

NM_032119.4(ADGRV1):c.16197-1G>T

SNV
Germline

Chr5:90823424

Likely pathogenic

Usher syndrome type 2C

No Assertion Criteria Provided

CA360425436

rs_1561805689

1 SubmittersRCV000770809

NM_206933.4(USH2A):c.1346G>A (p.Arg449His)

SNV
Germline

Chr1:216323678

Conflicting classifications of pathogenicity

Usher syndrome type 2A
Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 39
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1396540

rs_766715882

6 SubmittersRCV000778221 RCV001099202 RCV001049330 RCV003453611 RCV003889976

NM_015404.4(WHRN):c.2345C>A (p.Ser782Ter)

SNV
Germline

Chr9:114403969

Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 31
Usher syndrome type 2D

Criteria Provided
Single Submitter

CA374619716

rs_372472927

1 SubmittersRCV005047031

NM_022124.6(CDH23):c.4662C>A (p.Asp1554Glu)

SNV
Germline

Chr10:71741738

Conflicting classifications of pathogenicity

Usher syndrome type 1D
Condition: not provided
not specified
Usher syndrome type 1
Usher syndrome type 1D
Pituitary adenoma 5, multiple types
Autosomal recessive nonsyndromic hearing loss 12

Criteria Provided
Conflicting Classifications

CA5545120

rs_771353319

7 SubmittersRCV001107534 RCV001061690 RCV001195596 RCV001272899 RCV005049688

NM_022124.6(CDH23):c.5747G>A (p.Arg1916His)

SNV
Germline

Chr10:71785665

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 12
Condition: not provided
not specified
Usher syndrome type 1D
Pituitary adenoma 5, multiple types
Autosomal recessive nonsyndromic hearing loss 12

Criteria Provided
Conflicting Classifications

CA5545865

rs_746971522

4 SubmittersRCV000778288 RCV001856154 RCV002222635 RCV005047027

NM_174878.3(CLRN1):c.323T>C (p.Leu108Pro)

SNV
Germline

Chr3:150941692

Pathogenic

Usher syndrome type 3

Criteria Provided
Single Submitter

CA354955816

rs_1559982739

1 SubmittersRCV000782282

NM_206933.4(USH2A):c.1571C>T (p.Ala524Val)

SNV
Germline

Chr1:216321956

Conflicting classifications of pathogenicity

Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA344908034

rs_772624410

4 SubmittersRCV001578969 RCV000785178 RCV002535724

NM_032119.4(ADGRV1):c.14315C>G (p.Ser4772Ter)

SNV
Germline

Chr5:90791144

Pathogenic

Usher syndrome

No Assertion Criteria Provided

CA360401449

rs_1561740143

1 SubmittersRCV000786013

NM_206933.4(USH2A):c.2195G>T (p.Gly732Val)

SNV
Germline

Chr1:216247199

Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Single Submitter

CA344865650

rs_1360258103

2 SubmittersRCV000786945 RCV003992391

NM_206933.4(USH2A):c.8254G>A (p.Gly2752Arg)

SNV
Germline

Chr1:215879068

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Retinal dystrophy
Usher syndrome type 2A
Condition: not provided
Usher syndrome
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1394634

rs_201863550

11 SubmittersRCV000787741 RCV001073611 RCV001004145 RCV001091130 RCV003226391 RCV003453626 RCV005012311

NM_206933.4(USH2A):c.3005G>C (p.Cys1002Ser)

SNV
Germline

Chr1:216217539

Likely pathogenic

Retinitis pigmentosa
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Single Submitter

CA344863005

rs_1572060087

2 SubmittersRCV000787728 RCV005012310

NM_206933.4(USH2A):c.1391G>A (p.Arg464His)

SNV
Germline

Chr1:216323633

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1396531

rs_771000800

8 SubmittersRCV000787723 RCV001046264 RCV001074359 RCV005021181 RCV003453625

NM_206933.4(USH2A):c.9056-2A>G

SNV
Germline

Chr1:215844498

Pathogenic

Retinitis pigmentosa
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA1394412

rs_754970095

8 SubmittersRCV000787742 RCV001091128 RCV001830680 RCV003461062 RCV004818014

NM_022124.6(CDH23):c.2767G>A (p.Gly923Ser)

SNV
Germline

Chr10:71704944

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Usher syndrome type 1D
Pituitary adenoma 5, multiple types
Autosomal recessive nonsyndromic hearing loss 12
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5544335

rs_560251790

3 SubmittersRCV000787908 RCV002487623 RCV002535761

NM_174878.3(CLRN1):c.433+1G>A

SNV
Germline

Chr3:150941581

Pathogenic

Condition: not provided
Usher syndrome type 3
Retinitis pigmentosa 61

Criteria Provided
Multiple Submitters
No Conflicts

CA2666065

rs_201205811

5 SubmittersRCV001387204 RCV000791320 RCV003467324

NM_206933.4(USH2A):c.12854G>A (p.Trp4285Ter)

SNV
Germline

Chr1:215675057

Pathogenic

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1393396

rs_766491471

2 SubmittersRCV000814161 RCV005021234

NM_206933.4(USH2A):c.9676C>T (p.Arg3226Ter)

SNV
Germline

Chr1:215813799

Pathogenic

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1394243

rs_760858249

3 SubmittersRCV000820938 RCV001830806 RCV003473510

NM_206933.4(USH2A):c.5329C>T (p.Arg1777Trp)

SNV
Germline

Chr1:216078332

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome type 2A
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA1395468

rs_770329105

7 SubmittersRCV000819794 RCV001276249 RCV002507436 RCV003453722 RCV003889991

NM_001384140.1(PCDH15):c.3661C>T (p.Gln1221Ter)

SNV
Germline

Chr10:53866698

Pathogenic

Condition: not provided
Autosomal recessive nonsyndromic hearing loss 23
Usher syndrome type 1F

Criteria Provided
Single Submitter

CA376516722

rs_1589156388

3 SubmittersRCV000806168 RCV003472387 RCV005606712

NM_001384140.1(PCDH15):c.1209T>G (p.Tyr403Ter)

SNV
Germline

Chr10:54195779

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome type 1F
PCDH15-related disorder
Usher syndrome type 1F
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 23

Criteria Provided
Multiple Submitters
No Conflicts

CA5506464

rs_759187261

4 SubmittersRCV000795013 RCV002536992 RCV004735805 RCV005047063

NM_000260.4(MYO7A):c.5215C>T (p.Arg1739Ter)

SNV
Germline

Chr11:77203106

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Ear malformation
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2

Criteria Provided
Multiple Submitters
No Conflicts

CA224852665

rs_111033477

6 SubmittersRCV000815067 RCV001075462 RCV001814241 RCV002501115 RCV004698520

NM_206933.4(USH2A):c.6325+1G>A

SNV
Germline

Chr1:216046430

Pathogenic

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344858600

rs_1293202153

4 SubmittersRCV000803457 RCV001830736 RCV003461145 RCV005021216

NM_206933.4(USH2A):c.14069A>G (p.Tyr4690Cys)

SNV
Germline

Chr1:215671036

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 2A
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1393156

rs_150280500

6 SubmittersRCV000826073 RCV001272939 RCV001428720 RCV004818061

NM_206933.4(USH2A):c.13430A>G (p.Tyr4477Cys)

SNV
Germline

Chr1:215674481

Conflicting classifications of pathogenicity

not specified
Retinal dystrophy
Condition: not provided
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA37412460

rs_921800139

4 SubmittersRCV000826080 RCV001075631 RCV001361727 RCV001830848

NM_206933.4(USH2A):c.11443A>G (p.Ser3815Gly)

SNV
Germline

Chr1:215743282

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1393706

rs_149527139

3 SubmittersRCV000825848 RCV001274941 RCV001304559

NM_206933.4(USH2A):c.9047G>A (p.Cys3016Tyr)

SNV
Germline

Chr1:215845832

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA1394429

rs_759365458

4 SubmittersRCV000825495 RCV001038198 RCV001273707

NM_206933.4(USH2A):c.5504C>T (p.Ser1835Leu)

SNV
Germline

Chr1:216078157

Conflicting classifications of pathogenicity

not specified
Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA1395435

rs_199645514

4 SubmittersRCV000826081 RCV001075373 RCV001858416 RCV003453758 RCV003453757

NM_002109.6(HARS1):c.1177G>A (p.Val393Met)

SNV
Germline

Chr5:140676671

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 3B

Criteria Provided
Conflicting Classifications

CA3443906

rs_192923161

3 SubmittersRCV000825348 RCV001344025

NM_032119.4(ADGRV1):c.5574C>A (p.Asp1858Glu)

SNV
Germline

Chr5:90681364

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 2C
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3339619

rs_771317730

4 SubmittersRCV000825275 RCV001156880 RCV001344402 RCV002536044

NM_032119.4(ADGRV1):c.6975T>C (p.Asp2325=)

SNV
Germline

Chr5:90692628

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2C
ADGRV1-related disorder

Criteria Provided
Conflicting Classifications

CA3339943

rs_202030777

5 SubmittersRCV000825095 RCV000896504 RCV001151573 RCV004549905

NM_032119.4(ADGRV1):c.14405G>A (p.Arg4802Gln)

SNV
Germline

Chr5:90791234

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2C
Usher syndrome type 2

Criteria Provided
Conflicting Classifications

CA3341721

rs_534266547

5 SubmittersRCV000825106 RCV001055455 RCV001157526 RCV005359594

NM_032119.4(ADGRV1):c.16999A>G (p.Met5667Val)

SNV
Germline

Chr5:90840965

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 2C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3342264

rs_201767389

4 SubmittersRCV000825096 RCV001364432 RCV001152170 RCV004609555

NM_015404.4(WHRN):c.2384G>A (p.Arg795Gln)

SNV
Germline

Chr9:114403930

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 2D
Autosomal recessive nonsyndromic hearing loss 31
Condition: not provided
WHRN-related disorder

Criteria Provided
Conflicting Classifications

CA5205653

rs_143763650

7 SubmittersRCV000825268 RCV001169713 RCV001169714 RCV001510640 RCV003975338

NM_001195263.2(PDZD7):c.490C>T (p.Arg164Trp)

SNV
Germline

Chr10:101023488

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hearing loss, autosomal recessive 57
PDZD7-related disorder
Usher syndrome type 2A
Hearing loss, autosomal recessive 57
Usher syndrome type 2C

Criteria Provided
Conflicting Classifications

CA5654372

rs_200664140

7 SubmittersRCV000825430 RCV001858394 RCV002283515 RCV004738029 RCV004796328

NM_000260.4(MYO7A):c.617G>A (p.Arg206His)

SNV
Germline

Chr11:77156886

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided
Usher syndrome type 1B

Criteria Provided
Conflicting Classifications

CA6197204

rs_781998354

5 SubmittersRCV000825983 RCV001109567 RCV001113579 RCV001245266 RCV001275895

NM_000260.4(MYO7A):c.3384G>C (p.Lys1128Asn)

SNV
Germline

Chr11:77184596

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1B
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6198053

rs_372050452

4 SubmittersRCV000825402 RCV001272511 RCV001858389 RCV002536051

NM_000260.4(MYO7A):c.5263G>A (p.Ala1755Thr)

SNV
Germline

Chr11:77203154

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1B

Criteria Provided
Conflicting Classifications

CA6198659

rs_762131185

4 SubmittersRCV000825404 RCV002067412 RCV001273510

NM_000260.4(MYO7A):c.6272A>G (p.Lys2091Arg)

SNV
Germline

Chr11:77211855

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1B
not specified
MYO7A-related disorder

Criteria Provided
Conflicting Classifications

CA6198988

rs_781713344

5 SubmittersRCV000901466 RCV001274808 RCV000825202 RCV004726696

NM_006383.4(CIB2):c.311G>A (p.Arg104Gln)

SNV
Germline

Chr15:78109270

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 48
Usher syndrome type 1J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7680235

rs_200697103

5 SubmittersRCV000825139 RCV002495186 RCV001411435

NM_032119.4(ADGRV1):c.4128C>T (p.Asp1376=)

SNV
Germline

Chr5:90653702

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2C

Criteria Provided
Conflicting Classifications

CA3339293

rs_373730163

7 SubmittersRCV000839021 RCV001156787

NM_032119.4(ADGRV1):c.13227C>T (p.Phe4409=)

SNV
Germline

Chr5:90781574

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2C

Criteria Provided
Conflicting Classifications

CA3341463

rs_368497021

3 SubmittersRCV000828260 RCV001153216

NM_022124.6(CDH23):c.8444G>A (p.Arg2815His)

SNV
Germline

Chr10:71807651

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Usher syndrome type 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5546656

rs_376835293

6 SubmittersRCV000827303 RCV001102967 RCV001102968 RCV001276055 RCV002536093

NM_206933.4(USH2A):c.647T>G (p.Val216Gly)

SNV
Germline

Chr1:216418518

Likely pathogenic

Usher syndrome type 2A

Criteria Provided
Single Submitter

CA344902144

rs_1571801514

1 SubmittersRCV000853507

NM_022124.6(CDH23):c.2206C>T (p.Arg736Ter)

SNV
Germline

Chr10:71694176

Pathogenic

Usher syndrome type 1D
Condition: not provided
Pituitary adenoma 5, multiple types
Usher syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA377134677

rs_1230303971

4 SubmittersRCV000855416 RCV001243157 RCV003473524 RCV001825705

NM_032119.4(ADGRV1):c.10458G>A (p.Trp3486Ter)

SNV
Germline

Chr5:90729673

Pathogenic

Usher syndrome type 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA360405307

rs_1580905929

2 SubmittersRCV000857228 RCV001268686

NM_032119.4(ADGRV1):c.17974-1G>C

SNV
Germline

Chr5:90985343

Pathogenic

Usher syndrome type 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA360429033

rs_1581711527

2 SubmittersRCV000857229 RCV002538892

NM_206933.4(USH2A):c.13099G>A (p.Val4367Ile)

SNV
Germline

Chr1:215674812

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A
not specified
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA1393353

rs_146156360

4 SubmittersRCV000953433 RCV001272945 RCV004689937 RCV005392580

NM_002109.6(HARS1):c.155A>C (p.Gln52Pro)

SNV
Germline

Chr5:140690880

Conflicting classifications of pathogenicity

Usher syndrome type 3B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3444194

rs_201398055

2 SubmittersRCV000954564 RCV003328473

NM_032119.4(ADGRV1):c.5265G>A (p.Ala1755=)

SNV
Germline

Chr5:90675397

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2C
ADGRV1-related disorder

Criteria Provided
Conflicting Classifications

CA3339525

rs_189232336

3 SubmittersRCV000949916 RCV001155221 RCV004553393

NM_033056.4(PCDH15):c.4772G>A (p.Arg1591Lys)

SNV
Germline

Chr10:53822954

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1F
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5505194

rs_149384350

4 SubmittersRCV000967758 RCV001277671 RCV002548323

NM_000260.4(MYO7A):c.2475C>T (p.Arg825=)

SNV
Germline

Chr11:77179842

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1B

Criteria Provided
Conflicting Classifications

CA6197851

rs_782711428

5 SubmittersRCV000971060 RCV001110782 RCV001110783 RCV001110784 RCV001276690

NM_032119.4(ADGRV1):c.1071G>A (p.Ser357=)

SNV
Germline

Chr5:90627609

Conflicting classifications of pathogenicity

ADGRV1-related disorder
Condition: not provided
Usher syndrome type 2C

Criteria Provided
Conflicting Classifications

CA3338608

rs_756805245

4 SubmittersRCV004550013 RCV000881007 RCV001154896

NM_000260.4(MYO7A):c.6546C>T (p.Cys2182=)

SNV
Germline

Chr11:77213967

Conflicting classifications of pathogenicity

Condition: not provided
MYO7A-related disorder
Usher syndrome type 1B

Criteria Provided
Conflicting Classifications

CA6199105

rs_185748200

4 SubmittersRCV000879306 RCV004541774 RCV001274813

NM_206933.4(USH2A):c.3780T>C (p.His1260=)

SNV
Germline

Chr1:216199658

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA1395925

rs_759937489

4 SubmittersRCV000903592 RCV001097079 RCV001097080

NM_174878.3(CLRN1):c.20A>T (p.Lys7Ile)

SNV
Germline

Chr3:150972689

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 3
Usher syndrome type 3A
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA2666226

rs_3796241

6 SubmittersRCV000904991 RCV001146712 RCV001272455 RCV003890045

NM_032119.4(ADGRV1):c.777T>C (p.Asn259=)

SNV
Germline

Chr5:90627315

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2C

Criteria Provided
Conflicting Classifications

CA3338564

rs_775845081

2 SubmittersRCV000905689 RCV001154892

NM_032119.4(ADGRV1):c.6795C>T (p.Leu2265=)

SNV
Germline

Chr5:90690885

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2C

Criteria Provided
Conflicting Classifications

CA3339877

rs_760814922

2 SubmittersRCV000905256 RCV001151569

NM_032119.4(ADGRV1):c.15829C>T (p.Arg5277Cys)

SNV
Germline

Chr5:90811089

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2C
Inborn genetic diseases
not specified
ADGRV1-related disorder

Criteria Provided
Conflicting Classifications

CA3341986

rs_375450242

8 SubmittersRCV000899840 RCV001330108 RCV002540193 RCV004017760 RCV004551713

NM_032119.4(ADGRV1):c.18228C>T (p.Phe6076=)

SNV
Germline

Chr5:91072522

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2C

Criteria Provided
Conflicting Classifications

CA3342597

rs_562067191

2 SubmittersRCV000901010 RCV001157757

NM_022124.6(CDH23):c.1282G>A (p.Asp428Asn)

SNV
Germline

Chr10:71645972

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1
Pituitary adenoma 5, multiple types
Usher syndrome type 1D

Criteria Provided
Conflicting Classifications

CA5543751

rs_188376296

5 SubmittersRCV000904190 RCV001004341 RCV003473526 RCV002290979

NM_153676.4(USH1C):c.570G>A (p.Ser190=)

SNV
Germline

Chr11:17526762

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1C
USH1C-related disorder

Criteria Provided
Conflicting Classifications

CA5904974

rs_756709989

3 SubmittersRCV000908705 RCV001105299 RCV003912975

NM_000260.4(MYO7A):c.4647C>A (p.Thr1549=)

SNV
Germline

Chr11:77199613

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1B
MYO7A-related disorder

Criteria Provided
Conflicting Classifications

CA6198508

rs_757971917

4 SubmittersRCV000897829 RCV001113296 RCV001113295 RCV001111286 RCV001271764 RCV004541864

NM_032119.4(ADGRV1):c.8824+10G>A

SNV
Germline

Chr5:90708919

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2C

Criteria Provided
Conflicting Classifications

CA3340365

rs_180693049

5 SubmittersRCV000898520 RCV001155531

NM_032119.4(ADGRV1):c.6228C>T (p.Ile2076=)

SNV
Germline

Chr5:90684149

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2C

Criteria Provided
Conflicting Classifications

CA3339726

rs_376325671

2 SubmittersRCV000913938 RCV001154487

NM_032119.4(ADGRV1):c.18094T>C (p.Leu6032=)

SNV
Germline

Chr5:90985464

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2C
not specified

Criteria Provided
Conflicting Classifications

CA3342556

rs_766197164

3 SubmittersRCV000912438 RCV001157754 RCV001449787

NM_001384140.1(PCDH15):c.2445C>T (p.Asn815=)

SNV
Germline

Chr10:54022973

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1
PCDH15-related disorder
Usher syndrome type 1F

Criteria Provided
Conflicting Classifications

CA5506026

rs_768200772

5 SubmittersRCV000927706 RCV001104966 RCV004735892 RCV001826933

NM_022124.6(CDH23):c.324C>T (p.Ser108=)

SNV
Germline

Chr10:71510989

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12

Criteria Provided
Conflicting Classifications

CA5543375

rs_373668614

2 SubmittersRCV000924218 RCV001106035 RCV001106036

NM_022124.6(CDH23):c.6678C>T (p.Asn2226=)

SNV
Germline

Chr10:71793606

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA5546147

rs_372120764

3 SubmittersRCV000926272 RCV001275580

NM_022124.6(CDH23):c.8421C>T (p.Ser2807=)

SNV
Germline

Chr10:71807628

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA5546648

rs_755841293

3 SubmittersRCV000921708 RCV001276053

NM_153676.4(USH1C):c.540C>T (p.Leu180=)

SNV
Germline

Chr11:17526792

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1C

Criteria Provided
Conflicting Classifications

CA5904978

rs_145510974

2 SubmittersRCV000924097 RCV001105300

NM_000260.4(MYO7A):c.875G>A (p.Arg292Gln)

SNV
Germline

Chr11:77158302

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1B

Criteria Provided
Conflicting Classifications

CA6197290

rs_535205981

3 SubmittersRCV000926132 RCV001274694

NM_000260.4(MYO7A):c.19-9C>T

SNV
Germline

Chr11:77142700

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1B

Criteria Provided
Conflicting Classifications

CA6197002

rs_368452072

4 SubmittersRCV000925705 RCV001109243 RCV001109245 RCV001109244 RCV001274685

NM_206933.4(USH2A):c.9906C>T (p.Asn3302=)

SNV
Germline

Chr1:215798959

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA1394184

rs_757439664

4 SubmittersRCV000928362 RCV001276954 RCV001330643

NM_206933.4(USH2A):c.9611A>G (p.His3204Arg)

SNV
Germline

Chr1:215813864

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Usher syndrome type 2A
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1394255

rs_745539518

5 SubmittersRCV000937130 RCV001664556 RCV001278875 RCV003890091

NM_206933.4(USH2A):c.8146G>A (p.Glu2716Lys)

SNV
Germline

Chr1:215888503

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA1394676

rs_531822235

5 SubmittersRCV000940905 RCV001073932 RCV001276971 RCV001578965

NM_206933.4(USH2A):c.3666G>A (p.Ala1222=)

SNV
Germline

Chr1:216199772

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A
USH2A-related disorder

Criteria Provided
Conflicting Classifications

CA1395946

rs_764479854

4 SubmittersRCV000932732 RCV001275018 RCV004543495

NM_206933.4(USH2A):c.2365G>A (p.Val789Ile)

SNV
Germline

Chr1:216247029

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA1396244

rs_199571930

3 SubmittersRCV000928928 RCV001275022

NM_032119.4(ADGRV1):c.13293T>C (p.Tyr4431=)

SNV
Germline

Chr5:90783185

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2C

Criteria Provided
Conflicting Classifications

CA3341496

rs_375468899

3 SubmittersRCV000931366 RCV001153217

NM_001384140.1(PCDH15):c.4260C>T (p.Pro1420=)

SNV
Germline

Chr10:53827500

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1
Usher syndrome type 1F

Criteria Provided
Conflicting Classifications

CA5505386

rs_775658931

3 SubmittersRCV000942067 RCV001102955 RCV001272408

NM_001384140.1(PCDH15):c.3456T>C (p.Gly1152=)

SNV
Germline

Chr10:53903288

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1
Usher syndrome type 1F

Criteria Provided
Conflicting Classifications

CA5505663

rs_202091131

4 SubmittersRCV000941532 RCV001106032 RCV001273387

NM_001384140.1(PCDH15):c.1195A>C (p.Ser399Arg)

SNV
Germline

Chr10:54195793

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1F

Criteria Provided
Conflicting Classifications

CA5506467

rs_199786639

3 SubmittersRCV000937218 RCV001832137

NM_022124.6(CDH23):c.1750C>T (p.Arg584Trp)

SNV
Germline

Chr10:71677691

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1
CDH23-related disorder

Criteria Provided
Conflicting Classifications

CA5543939

rs_375781856

4 SubmittersRCV000941267 RCV001275930 RCV004543522

NM_022124.6(CDH23):c.5112C>T (p.His1704=)

SNV
Germline

Chr10:71778233

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA5545646

rs_774919846

3 SubmittersRCV000943881 RCV001104307 RCV001104306 RCV001827010

NM_022124.6(CDH23):c.5236C>T (p.Arg1746Trp)

SNV
Germline

Chr10:71779315

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
CDH23-related disorder

Criteria Provided
Conflicting Classifications

CA5545695

rs_201763918

4 SubmittersRCV000941265 RCV001273556 RCV001107062 RCV001107061 RCV004543521

NM_022124.6(CDH23):c.5397G>A (p.Gly1799=)

SNV
Germline

Chr10:71784315

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA5545741

rs_749913488

3 SubmittersRCV000928714 RCV001107734 RCV001104089 RCV001273559

NM_022124.6(CDH23):c.6333G>A (p.Gly2111=)

SNV
Germline

Chr10:71793261

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA5546056

rs_368155422

3 SubmittersRCV000931972 RCV001102666 RCV001102667 RCV001275572

NM_000260.4(MYO7A):c.3783C>T (p.Pro1261=)

SNV
Germline

Chr11:77190729

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1B

Criteria Provided
Conflicting Classifications

CA6198199

rs_754599732

3 SubmittersRCV000931572 RCV001110350 RCV001110351 RCV001110352 RCV001271751

NM_000260.4(MYO7A):c.5005G>A (p.Val1669Ile)

SNV
Germline

Chr11:77201600

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1B
MYO7A-related disorder

Criteria Provided
Conflicting Classifications

CA6198588

rs_374655803

4 SubmittersRCV000941085 RCV001272801 RCV004533607

NM_000260.4(MYO7A):c.5969A>G (p.Gln1990Arg)

SNV
Germline

Chr11:77208721

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6198893

rs_560293591

5 SubmittersRCV000928316 RCV001272818 RCV005443192

NM_000260.4(MYO7A):c.6552G>A (p.Thr2184=)

SNV
Germline

Chr11:77213973

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1B

Criteria Provided
Conflicting Classifications

CA6199108

rs_370866578

4 SubmittersRCV000939309 RCV001113758 RCV001113759 RCV001113757 RCV001274814

NM_022124.6(CDH23):c.68-3C>T

SNV
Germline

Chr10:71446315

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 12

Criteria Provided
Conflicting Classifications

CA5543288

rs_142456469

4 SubmittersRCV000941635 RCV001276796 RCV001333129

NM_174878.3(CLRN1):c.270C>G (p.Leu90=)

SNV
Germline

Chr3:150941745

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 3A
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA2666099

rs_143232961

3 SubmittersRCV000981414 RCV001275852 RCV003890143

NM_032119.4(ADGRV1):c.1317C>T (p.Ser439=)

SNV
Germline

Chr5:90628640

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2C
ADGRV1-related disorder

Criteria Provided
Conflicting Classifications

CA3338669

rs_368171530

3 SubmittersRCV000977413 RCV001156563 RCV004553512

NM_032119.4(ADGRV1):c.18906C>T (p.Ala6302=)

SNV
Germline

Chr5:91163885

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2C

Criteria Provided
Conflicting Classifications

CA3342777

rs_369528456

3 SubmittersRCV000975419 RCV001153550

NM_022124.6(CDH23):c.1317C>T (p.Asp439=)

SNV
Germline

Chr10:71646485

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA5543775

rs_748828988

3 SubmittersRCV000979387 RCV001271843

NM_153676.4(USH1C):c.192G>A (p.Pro64=)

SNV
Germline

Chr11:17531455

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1C

Criteria Provided
Conflicting Classifications

CA218465312

rs_1040470628

2 SubmittersRCV000981080 RCV001106430

NM_000260.4(MYO7A):c.759C>T (p.His253=)

SNV
Germline

Chr11:77157302

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1B

Criteria Provided
Conflicting Classifications

CA6197244

rs_182220009

3 SubmittersRCV000979396 RCV001111844 RCV001111845 RCV001111843 RCV001832269

NM_000260.4(MYO7A):c.4362C>A (p.Val1454=)

SNV
Germline

Chr11:77197519

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Usher syndrome type 1B
MYO7A-related disorder

Criteria Provided
Conflicting Classifications

CA6198430

rs_374492441

5 SubmittersRCV000980121 RCV001195465 RCV001271760 RCV004735922

NM_000260.4(MYO7A):c.6090G>A (p.Thr2030=)

SNV
Germline

Chr11:77211190

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11

Criteria Provided
Conflicting Classifications

CA475791905

rs_1381141633

2 SubmittersRCV000979886 RCV001113655 RCV001113657 RCV001113656

NM_022124.6(CDH23):c.7661-8A>G

SNV
Germline

Chr10:71803201

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA5546418

rs_754067214

3 SubmittersRCV000978127 RCV001102868 RCV001102867 RCV001276043

NM_206933.4(USH2A):c.15380C>T (p.Pro5127Leu)

SNV
Germline

Chr1:215628953

Conflicting classifications of pathogenicity

Usher syndrome type 2A
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA1392688

rs_201513512

7 SubmittersRCV000986514 RCV001041834 RCV001074615 RCV001328877 RCV005012408

NM_206933.4(USH2A):c.12712T>C (p.Tyr4238His)

SNV
Germline

Chr1:215675199

Likely pathogenic

Usher syndrome type 2A

Criteria Provided
Single Submitter

CA344849664

rs_1571949388

2 SubmittersRCV000986517

NM_206933.4(USH2A):c.11389+1G>A

SNV
Germline

Chr1:215758594

Pathogenic

Usher syndrome type 2A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA37425391

rs_368770647

3 SubmittersRCV000986521 RCV001062300

NM_206933.4(USH2A):c.10385C>T (p.Thr3462Ile)

SNV
Germline

Chr1:215786672

Conflicting classifications of pathogenicity

Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA344839529

rs_1416602859

6 SubmittersRCV000986523 RCV001247865 RCV003473529 RCV004586999 RCV005012409

NM_206933.4(USH2A):c.9827C>A (p.Ser3276Ter)

SNV
Unknown

Chr1:215799038

Pathogenic

Usher syndrome type 2A

Criteria Provided
Single Submitter

CA344849421

rs_863224941

1 SubmittersRCV000986526

NM_206933.4(USH2A):c.7932G>A (p.Trp2644Ter)

SNV
Germline

Chr1:215888717

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA344839425

rs_1571783742

10 SubmittersRCV000986528 RCV001381632 RCV001075207 RCV003455007 RCV002503145 RCV003324539

NM_206933.4(USH2A):c.2810G>T (p.Gly937Val)

SNV
Germline

Chr1:216232136

Conflicting classifications of pathogenicity

Usher syndrome type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA344863450

rs_1572074313

2 SubmittersRCV000986540 RCV001858645

NM_206933.4(USH2A):c.2809+1G>A

SNV
Germline

Chr1:216246584

Pathogenic

Usher syndrome type 2A
Retinal dystrophy
Condition: not provided
Usher syndrome
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1396162

rs_759433119

5 SubmittersRCV000986541 RCV001075468 RCV001858646 RCV003230611 RCV003446564

NM_206933.4(USH2A):c.1829A>C (p.His610Pro)

SNV
Germline

Chr1:216292186

Conflicting classifications of pathogenicity

Usher syndrome type 2A
not specified
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA344903008

rs_1571668556

4 SubmittersRCV000986547 RCV005432511 RCV001858647 RCV004818092

NM_206933.4(USH2A):c.1547G>T (p.Gly516Val)

SNV
Germline

Chr1:216323477

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA344909398

rs_1415484067

5 SubmittersRCV000986548 RCV001869337 RCV003467540 RCV005418945

NM_206933.4(USH2A):c.851A>G (p.Glu284Gly)

SNV
Germline

Chr1:216325597

Conflicting classifications of pathogenicity

Usher syndrome type 2A
Retinal dystrophy
Condition: not provided
not specified
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA1396655

rs_762869685

5 SubmittersRCV000986551 RCV001075391 RCV001307771 RCV002265917 RCV005012411

NM_174878.3(CLRN1):c.128G>T (p.Gly43Val)

SNV
Germline

Chr3:150972581

Pathogenic/Likely pathogenic

Usher syndrome type 3
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA85947815

rs_933370216

2 SubmittersRCV000987346 RCV001869342

NM_032119.4(ADGRV1):c.9208G>T (p.Asp3070Tyr)

SNV
Unknown

Chr5:90716490

Likely pathogenic

Usher syndrome type 2C

Criteria Provided
Single Submitter

CA360397019

rs_1580845586

1 SubmittersRCV000987538

NM_001384140.1(PCDH15):c.1863T>G (p.Tyr621Ter)

SNV
Germline

Chr10:54132929

Pathogenic

Usher syndrome type 1F
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA376514993

rs_1590691343

2 SubmittersRCV000988362 RCV002549707

NM_000260.4(MYO7A):c.268C>T (p.Arg90Trp)

SNV
Germline

Chr11:77147933

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 2
Condition: not provided
Usher syndrome type 1B

Criteria Provided
Conflicting Classifications

CA6197080

rs_781834630

4 SubmittersRCV000988599 RCV001243585 RCV001827129

NM_000260.4(MYO7A):c.4489G>C (p.Gly1497Arg)

SNV
Germline

Chr11:77198542

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 2
Condition: not provided
Usher syndrome
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Hearing loss, autosomal recessive

Criteria Provided
Conflicting Classifications

CA381950296

rs_751769391

7 SubmittersRCV000988613 RCV001858695 RCV003324544 RCV005012413 RCV004699129

NM_000260.4(MYO7A):c.6026C>A (p.Ala2009Asp)

SNV
Germline

Chr11:77208778

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 2
Condition: not provided
Usher syndrome type 1B
Usher syndrome

Criteria Provided
Conflicting Classifications

CA381934605

rs_1173853484

4 SubmittersRCV000988617 RCV001060649 RCV001272820 RCV005418946

NM_002109.6(HARS1):c.1393A>C (p.Ile465Leu)

SNV
Germline

Chr5:140674744

Conflicting classifications of pathogenicity

11 conditions
Usher syndrome type 3B
Peripheral neuropathy
Spastic ataxia
HARS1-related disorder

Criteria Provided
Conflicting Classifications

CA3443833

rs_754304255

4 SubmittersRCV001007622 RCV001246783 RCV001814247 RCV001644878 RCV003973002

NM_206933.4(USH2A):c.12344G>A (p.Arg4115His)

SNV
Germline

Chr1:215675567

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA1393486

rs_775075094

4 SubmittersRCV000993537 RCV001827140 RCV002481758

NM_032119.4(ADGRV1):c.12786C>T (p.Ser4262=)

SNV
Germline

Chr5:90778546

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2C

Criteria Provided
Conflicting Classifications

CA3341332

rs_201777525

3 SubmittersRCV000991483 RCV001151950

NM_032119.4(ADGRV1):c.15830G>A (p.Arg5277His)

SNV
Germline

Chr5:90811090

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3341987

rs_747856236

5 SubmittersRCV000991485 RCV001155932 RCV004030123

NM_206933.4(USH2A):c.14413G>A (p.Val4805Ile)

SNV
Germline

Chr1:215648697

Conflicting classifications of pathogenicity

Usher syndrome type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1393022

rs_147532612

7 SubmittersRCV001272934 RCV000994243

NM_206933.4(USH2A):c.13484G>A (p.Arg4495His)

SNV
Germline

Chr1:215674427

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
USH2A-related disorder
Usher syndrome type 2A
Retinitis pigmentosa 39
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1393282

rs_550096037

8 SubmittersRCV000994244 RCV001074070 RCV004544995 RCV001827144 RCV003455025 RCV005512860

NM_206933.4(USH2A):c.1531G>A (p.Glu511Lys)

SNV
Germline

Chr1:216323493

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Usher syndrome

Criteria Provided
Conflicting Classifications

CA1396497

rs_767209934

5 SubmittersRCV000994252 RCV005012427 RCV003467553 RCV004587003

NM_033056.4(PCDH15):c.5839C>T (p.Gln1947Ter)

SNV
Germline

Chr10:53821887

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1F
Condition: not provided

Criteria Provided
Conflicting Classifications

CA376524097

rs_1457208099

3 SubmittersRCV001002367 RCV001827158 RCV002068791

NM_206933.4(USH2A):c.11699A>G (p.Tyr3900Cys)

SNV
Germline

Chr1:215741387

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA344833152

rs_1386612395

2 SubmittersRCV001002710 RCV003574816

NM_174878.3(CLRN1):c.65T>A (p.Leu22His)

SNV
Germline

Chr3:150972644

Pathogenic

Usher syndrome type 3

Criteria Provided
Single Submitter

CA355012120

rs_1576651623

1 SubmittersRCV001002692

NM_206933.4(USH2A):c.12067-1G>A

SNV
Germline

Chr1:215680377

Pathogenic

Usher syndrome type 2A

Criteria Provided
Single Submitter

CA344816758

rs_397517977

1 SubmittersRCV001002693

NM_206933.4(USH2A):c.6657+1G>A

SNV
Germline

Chr1:215998886

Pathogenic

Usher syndrome type 2A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA344860872

rs_1571876788

3 SubmittersRCV001002691 RCV002549189

NM_032119.4(ADGRV1):c.9748+2T>C

SNV
Germline

Chr5:90721061

Pathogenic

Usher syndrome type 2C

Criteria Provided
Single Submitter

CA360401248

rs_1580864592

1 SubmittersRCV001002708

NM_032119.4(ADGRV1):c.13232-1G>A

SNV
Germline

Chr5:90783123

Pathogenic/Likely pathogenic

Usher syndrome type 2C
Febrile seizures, familial, 4
Usher syndrome type 2C

Criteria Provided
Multiple Submitters
No Conflicts

CA3341482

rs_764583867

2 SubmittersRCV001002725 RCV002489510

NM_206933.4(USH2A):c.14350G>A (p.Glu4784Lys)

SNV
Germline

Chr1:215648760

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA1393037

rs_746837034

6 SubmittersRCV001003252 RCV001240871 RCV001836060 RCV003461305 RCV005021312

NM_206933.4(USH2A):c.14023A>T (p.Arg4675Ter)

SNV
Germline

Chr1:215671082

Pathogenic

Usher syndrome type 2

No Assertion Criteria Provided

CA344840593

rs_1571945476

1 SubmittersRCV001003253

NM_206933.4(USH2A):c.8721T>A (p.Ser2907Arg)

SNV
Germline

Chr1:215867131

Likely pathogenic

Usher syndrome type 2

No Assertion Criteria Provided

CA344851447

rs_1571762632

1 SubmittersRCV001003265

NM_206933.4(USH2A):c.5519G>T (p.Gly1840Val)

SNV
Germline

Chr1:216078142

Pathogenic

Usher syndrome type 2

No Assertion Criteria Provided

CA344855822

rs_1571941511

1 SubmittersRCV001003272

NM_206933.4(USH2A):c.2296T>C (p.Cys766Arg)

SNV
Germline

Chr1:216247098

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome
USH2A-related disorder
Retinal dystrophy
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1396250

rs_368687374

12 SubmittersRCV001003278 RCV001040831 RCV002489511 RCV003226415 RCV004733108 RCV001073915 RCV001832324 RCV003455049

NM_206933.4(USH2A):c.2109T>G (p.Asp703Glu)

SNV
Germline

Chr1:216250961

Likely pathogenic

Usher syndrome type 2

No Assertion Criteria Provided

CA344866249

rs_45555435

1 SubmittersRCV001003281

NM_206933.4(USH2A):c.1856T>C (p.Leu619Pro)

SNV
Germline

Chr1:216289395

Likely pathogenic

Usher syndrome type 2

No Assertion Criteria Provided

CA1396373

rs_777701725

1 SubmittersRCV001003282

NM_174878.3(CLRN1):c.437C>A (p.Ser146Tyr)

SNV
Germline

Chr3:150928198

Likely pathogenic

Usher syndrome type 3

No Assertion Criteria Provided

CA354953514

rs_201625237

1 SubmittersRCV001002950

NM_022124.6(CDH23):c.5311C>T (p.Arg1771Ter)

SNV
Germline

Chr10:71779390

Pathogenic/Likely pathogenic

Usher syndrome type 1
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 12
Pituitary adenoma 5, multiple types
Usher syndrome type 1D
Pituitary adenoma 5, multiple types

Criteria Provided
Multiple Submitters
No Conflicts

CA5545707

rs_750027965

6 SubmittersRCV001002923 RCV001869434 RCV002505534 RCV003473540

NM_000260.4(MYO7A):c.2187+1G>T

SNV
Germline

Chr11:77175465

Likely pathogenic

Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2

Criteria Provided
Single Submitter

CA381939793

rs_111033290

2 SubmittersRCV001003085 RCV001809892

NM_206933.4(USH2A):c.14761G>T (p.Glu4921Ter)

SNV
Germline

Chr1:215647552

Pathogenic/Likely pathogenic

Usher syndrome type 2
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344830880

rs_754834155

5 SubmittersRCV001199585 RCV001376437 RCV003455052 RCV005012436

NM_206933.4(USH2A):c.12855G>A (p.Trp4285Ter)

SNV
Germline

Chr1:215675056

Pathogenic

Usher syndrome type 2
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344848689

rs_1657965422

2 SubmittersRCV001199583 RCV003467566

NM_206933.4(USH2A):c.9682C>T (p.Gln3228Ter)

SNV
Germline

Chr1:215813793

Pathogenic

Usher syndrome type 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA344821731

rs_1662772955

2 SubmittersRCV001199593 RCV003679025

NM_206933.4(USH2A):c.4210G>T (p.Glu1404Ter)

SNV
Germline

Chr1:216196594

Pathogenic

Usher syndrome type 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA344866248

rs_2034849647

2 SubmittersRCV001199590 RCV003574817

NM_206933.4(USH2A):c.1986T>A (p.Cys662Ter)

SNV
Germline

Chr1:216251084

Pathogenic

Usher syndrome type 2

Criteria Provided
Single Submitter

CA344866803

rs_2036152207

1 SubmittersRCV001199789

NM_206933.4(USH2A):c.668T>C (p.Ile223Thr)

SNV
Germline

Chr1:216365069

Pathogenic

Usher syndrome type 2

Criteria Provided
Single Submitter

CA344908653

rs_2038569132

1 SubmittersRCV001199804

NM_206933.4(USH2A):c.575A>C (p.Asn192Thr)

SNV
Germline

Chr1:216418590

Pathogenic

Usher syndrome type 2

Criteria Provided
Single Submitter

CA344902490

rs_2039616380

1 SubmittersRCV001199594

NM_032119.4(ADGRV1):c.2241-2A>G

SNV
Germline

Chr5:90642634

Pathogenic

Usher syndrome type 2

Criteria Provided
Single Submitter

CA121834245

rs_929034631

1 SubmittersRCV001199636

NM_022124.6(CDH23):c.8053G>T (p.Ala2685Ser)

SNV
Germline

Chr10:71805986

Conflicting classifications of pathogenicity

Usher syndrome type 2
not specified

Criteria Provided
Conflicting Classifications

CA377162243

rs_1362644811

2 SubmittersRCV001199450 RCV004526793

NM_022124.6(CDH23):c.9077+1G>A

SNV
Germline

Chr10:71810570

Pathogenic

Condition: not provided
Usher syndrome type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA377134207

rs_1841885880

2 SubmittersRCV001090813 RCV001199452

NM_153676.4(USH1C):c.580-2A>T

SNV
Germline

Chr11:17526443

Pathogenic/Likely pathogenic

Usher syndrome type 2
Condition: not provided
Hearing impairment
Autosomal recessive nonsyndromic hearing loss 18A
Usher syndrome type 1C

Criteria Provided
Multiple Submitters
No Conflicts

CA379793839

rs_1850678559

5 SubmittersRCV001199565 RCV001268623 RCV001375345 RCV005047192

NM_000260.4(MYO7A):c.1853T>G (p.Leu618Arg)

SNV
Germline

Chr11:77172803

Pathogenic

Usher syndrome type 2

Criteria Provided
Single Submitter

CA381938404

rs_1954240719

1 SubmittersRCV001199711

NM_000260.4(MYO7A):c.1997G>C (p.Arg666Pro)

SNV
Germline

Chr11:77174817

Pathogenic

Usher syndrome type 2

Criteria Provided
Single Submitter

CA381939272

rs_782396605

1 SubmittersRCV001199712

NM_000260.4(MYO7A):c.4852+1G>A

SNV
Germline

Chr11:77199819

Pathogenic

Usher syndrome type 1

Criteria Provided
Single Submitter

CA381951069

rs_1956938352

1 SubmittersRCV001199713

NM_206933.4(USH2A):c.11754G>A (p.Trp3918Ter)

SNV
Germline

Chr1:215728342

Pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA344829667

rs_1358947010

7 SubmittersRCV001004144 RCV002489513 RCV003455060 RCV004800657 RCV001383730

NM_206933.4(USH2A):c.1521T>A (p.Tyr507Ter)

SNV
Germline

Chr1:216323503

Likely pathogenic

Usher syndrome type 2A

Criteria Provided
Single Submitter

CA344909562

rs_1571701072

1 SubmittersRCV001004146

NM_001384140.1(PCDH15):c.556C>T (p.Gln186Ter)

SNV
Germline

Chr10:54346403

Pathogenic/Likely pathogenic

Usher syndrome type 1
Usher syndrome type 1F
Autosomal recessive nonsyndromic hearing loss 23
Condition: not provided
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 23
Usher syndrome type 1F

Criteria Provided
Multiple Submitters
No Conflicts

CA376541666

rs_1384677442

5 SubmittersRCV001004340 RCV002549240 RCV003473548 RCV003769404 RCV005047193

NM_022124.6(CDH23):c.7872G>A (p.Glu2624=)

SNV
Germline

Chr10:71803420

Pathogenic

Usher syndrome type 1
Pituitary adenoma 5, multiple types
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA470062995

rs_1292050472

2 SubmittersRCV001004342 RCV003473549 RCV003558635

NM_000260.4(MYO7A):c.1168C>T (p.Gln390Ter)

SNV
Germline

Chr11:77160250

Pathogenic/Likely pathogenic

Usher syndrome type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA381934576

rs_1555067598

4 SubmittersRCV001004379 RCV003132140

NM_000260.4(MYO7A):c.2837T>G (p.Met946Arg)

SNV
Germline

Chr11:77181522

Pathogenic/Likely pathogenic

Usher syndrome type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA381943112

rs_1296612982

2 SubmittersRCV001004381 RCV001383211

NM_206933.4(USH2A):c.14365C>T (p.Gln4789Ter)

SNV
Germline

Chr1:215648745

Pathogenic

Condition: not provided
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344834202

rs_1571929573

3 SubmittersRCV001008020 RCV002462254

NM_206933.4(USH2A):c.2073C>A (p.Cys691Ter)

SNV
Germline

Chr1:216250997

Pathogenic

Condition: not provided
Usher syndrome type 2A
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344866417

rs_376674482

5 SubmittersRCV001007965 RCV003455064 RCV005021315

NM_032119.4(ADGRV1):c.2864C>A (p.Ser955Ter)

SNV
Germline

Chr5:90644835

Pathogenic

Condition: not provided
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA3339031

rs_746618021

5 SubmittersRCV001008648 RCV003324548

NM_006383.4(CIB2):c.97C>T (p.Arg33Ter)

SNV
Germline

Chr15:78111266

Pathogenic

Condition: not provided
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA7680336

rs_201845656

6 SubmittersRCV001007984 RCV003155335

NM_032119.4(ADGRV1):c.4148A>G (p.Tyr1383Cys)

SNV
Germline

Chr5:90653722

Conflicting classifications of pathogenicity

Usher syndrome type 2C
not specified

Criteria Provided
Conflicting Classifications

CA360401591

rs_1580609185

2 SubmittersRCV001027716 RCV001192972

NM_032119.4(ADGRV1):c.4391T>G (p.Leu1464Arg)

SNV
Germline

Chr5:90657917

Likely pathogenic

Usher syndrome type 2C

No Assertion Criteria Provided

CA360403449

rs_1580624630

1 SubmittersRCV001029959

NM_206933.4(USH2A):c.3941A>G (p.Glu1314Gly)

SNV
Germline

Chr1:216198455

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A
Inborn genetic diseases
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1395864

rs_77797012

5 SubmittersRCV001034303 RCV001275016 RCV002552054 RCV004818186

NM_206933.4(USH2A):c.1898C>T (p.Ser633Leu)

SNV
Germline

Chr1:216289353

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa
Hearing impairment
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1396363

rs_373190681

5 SubmittersRCV001034143 RCV001100845 RCV001100844 RCV001375204 RCV004818185

NM_206933.4(USH2A):c.1439T>C (p.Val480Ala)

SNV
Germline

Chr1:216323585

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 39
Usher syndrome type 2A
Inborn genetic diseases
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1396520

rs_200981928

10 SubmittersRCV001034413 RCV001097359 RCV001593193 RCV001097358 RCV002552058 RCV004783880 RCV004818187

NM_000260.4(MYO7A):c.5029C>T (p.Pro1677Ser)

SNV
Germline

Chr11:77201624

Conflicting classifications of pathogenicity

Condition: not provided
MYO7A-related disorder
Usher syndrome type 1B
not specified

Criteria Provided
Conflicting Classifications

CA6198595

rs_535102352

5 SubmittersRCV001034173 RCV004536057 RCV001272802 RCV003117713

NM_000260.4(MYO7A):c.6426T>A (p.Asp2142Glu)

SNV
Germline

Chr11:77213023

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6199059

rs_374575441

4 SubmittersRCV001034150 RCV001274811 RCV003243396

NM_206933.4(USH2A):c.15029A>T (p.Gln5010Leu)

SNV
Germline

Chr1:215639178

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
Usher syndrome type 2A
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1392829

rs_138640647

5 SubmittersRCV001063516 RCV001075258 RCV001276144 RCV004689975 RCV004963081

NM_206933.4(USH2A):c.14600A>T (p.His4867Leu)

SNV
Germline

Chr1:215647713

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA1392966

rs_374096293

3 SubmittersRCV001044741 RCV001272932

NM_206933.4(USH2A):c.14038C>T (p.Gln4680Ter)

SNV
Germline

Chr1:215671067

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344840479

rs_1657798642

4 SubmittersRCV001055885 RCV001075003 RCV003455253 RCV005012499

NM_206933.4(USH2A):c.13483C>T (p.Arg4495Cys)

SNV
Germline

Chr1:215674428

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA1393283

rs_746221227

3 SubmittersRCV001047311 RCV001827299 RCV002497387

NM_206933.4(USH2A):c.13133C>T (p.Pro4378Leu)

SNV
Germline

Chr1:215674778

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy
Usher syndrome type 2A
Inborn genetic diseases
USH2A-related disorder

Criteria Provided
Conflicting Classifications

CA1393345

rs_570277510

8 SubmittersRCV001043922 RCV001805991 RCV001073415 RCV001272944 RCV003160314 RCV004733115

NM_206933.4(USH2A):c.12958G>C (p.Asp4320His)

SNV
Germline

Chr1:215674953

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A
USH2A-related disorder

Criteria Provided
Conflicting Classifications

CA1393380

rs_140202956

3 SubmittersRCV001066962 RCV001827433 RCV004536129

NM_206933.4(USH2A):c.11382A>G (p.Ile3794Met)

SNV
Germline

Chr1:215758602

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1393760

rs_200521328

3 SubmittersRCV001047098 RCV001271136 RCV003160360

NM_206933.4(USH2A):c.11134G>A (p.Val3712Ile)

SNV
Germline

Chr1:215759757

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A
Retinal dystrophy
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA1393808

rs_201951918

5 SubmittersRCV001057430 RCV001271139 RCV003890203 RCV002482019 RCV003455257

NM_206933.4(USH2A):c.10820A>C (p.His3607Pro)

SNV
Germline

Chr1:215779962

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA1393914

rs_750321557

5 SubmittersRCV001060442 RCV003455273 RCV003467808 RCV004782633

NM_206933.4(USH2A):c.10074C>A (p.Cys3358Ter)

SNV
Germline

Chr1:215790167

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome type 2A
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA344844021

rs_1403618793

4 SubmittersRCV001066221 RCV003455289 RCV003117733

NM_206933.4(USH2A):c.9885T>G (p.Cys3295Trp)

SNV
Germline

Chr1:215798980

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA1394188

rs_780036975

3 SubmittersRCV001067445 RCV003455293

NM_206933.4(USH2A):c.9441G>A (p.Trp3147Ter)

SNV
Germline

Chr1:215817126

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344825126

rs_1662880750

3 SubmittersRCV001061745 RCV003473680 RCV005021401

NM_206933.4(USH2A):c.8758A>G (p.Thr2920Ala)

SNV
Germline

Chr1:215867094

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA1394516

rs_762358589

3 SubmittersRCV001049404 RCV001073507 RCV001832460

NM_206933.4(USH2A):c.8232G>C (p.Trp2744Cys)

SNV
Germline

Chr1:215879090

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome type 2A
USH2A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA344832781

rs_1424639717

8 SubmittersRCV001052468 RCV001075376 RCV003455229 RCV005021377 RCV003455228 RCV004528359

NM_206933.4(USH2A):c.6616C>T (p.Gln2206Ter)

SNV
Germline

Chr1:215998928

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA1395094

rs_769609970

4 SubmittersRCV001051415 RCV001073838 RCV003455223 RCV005606757

NM_206933.4(USH2A):c.5980G>A (p.Glu1994Lys)

SNV
Germline

Chr1:216070170

Conflicting classifications of pathogenicity

Usher syndrome type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1395282

rs_147023536

3 SubmittersRCV001273043 RCV001051362

NM_206933.4(USH2A):c.4933G>T (p.Gly1645Ter)

SNV
Germline

Chr1:216086773

Pathogenic

Condition: not provided
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344859830

rs_2032147505

3 SubmittersRCV001070700 RCV003455300

NM_206933.4(USH2A):c.4732C>T (p.Arg1578Cys)

SNV
Germline

Chr1:216097109

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39
Usher syndrome
Usher syndrome type 2A
Retinal dystrophy
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA1395641

rs_201529124

10 SubmittersRCV001067861 RCV001376322 RCV002282450 RCV003455294 RCV004813699 RCV005021413

NM_206933.4(USH2A):c.4587A>C (p.Lys1529Asn)

SNV
Germline

Chr1:216175292

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1395687

rs_756423843

4 SubmittersRCV001048855 RCV001273054 RCV003363075

NM_206933.4(USH2A):c.3026C>T (p.Ala1009Val)

SNV
Germline

Chr1:216217518

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1396100

rs_150729680

4 SubmittersRCV001065530 RCV001271233 RCV002555843

NM_206933.4(USH2A):c.2800T>C (p.Cys934Arg)

SNV
Germline

Chr1:216246594

Likely pathogenic

Condition: not provided
Usher syndrome type 2A

Criteria Provided
Single Submitter

CA1396163

rs_376591221

2 SubmittersRCV001062293 RCV001832555

NM_206933.4(USH2A):c.2146A>T (p.Lys716Ter)

SNV
Germline

Chr1:216250924

Pathogenic

Condition: not provided
Usher syndrome type 2
Retinitis pigmentosa 39
USH2A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA344866088

rs_1364987785

4 SubmittersRCV001058203 RCV002307669 RCV003473664 RCV004726845

NM_206933.4(USH2A):c.127G>A (p.Val43Met)

SNV
Germline

Chr1:216422210

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA1396851

rs_147421006

5 SubmittersRCV001051408 RCV001277093 RCV003455222

NM_002109.6(HARS1):c.695G>A (p.Arg232His)

SNV
Germline

Chr5:140677689

Conflicting classifications of pathogenicity

Usher syndrome type 3B
not specified

Criteria Provided
Conflicting Classifications

CA3444022

rs_550778711

2 SubmittersRCV001071624 RCV004031153

NM_032119.4(ADGRV1):c.2636C>T (p.Thr879Met)

SNV
Germline

Chr5:90643885

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2C
Hearing impairment
Usher syndrome type 2C
Febrile seizures, familial, 4

Criteria Provided
Conflicting Classifications

CA3338977

rs_201007778

9 SubmittersRCV001057951 RCV001155014 RCV001375207 RCV002479352

NM_032119.4(ADGRV1):c.2974A>G (p.Thr992Ala)

SNV
Germline

Chr5:90646043

Conflicting classifications of pathogenicity

Condition: not provided
Febrile seizures, familial, 4
Usher syndrome type 2C

Criteria Provided
Conflicting Classifications

CA3339075

rs_368163419

4 SubmittersRCV001053632 RCV002505606

NM_032119.4(ADGRV1):c.3928A>C (p.Thr1310Pro)

SNV
Germline

Chr5:90653502

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2C

Criteria Provided
Conflicting Classifications

CA3339258

rs_771051473

2 SubmittersRCV001039477 RCV001155121

NM_032119.4(ADGRV1):c.5207A>G (p.Asp1736Gly)

SNV
Germline

Chr5:90675339

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2C

Criteria Provided
Conflicting Classifications

CA3339516

rs_773201854

2 SubmittersRCV001056227 RCV001155219

NM_032119.4(ADGRV1):c.6469G>A (p.Val2157Met)

SNV
Germline

Chr5:90685974

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2C
not specified

Criteria Provided
Conflicting Classifications

CA3339787

rs_144723817

3 SubmittersRCV001038542 RCV001155318 RCV004702592

NM_032119.4(ADGRV1):c.10228G>A (p.Val3410Met)

SNV
Germline

Chr5:90728735

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2C
not specified

Criteria Provided
Conflicting Classifications

CA3340710

rs_1996552

4 SubmittersRCV001068192 RCV001152996 RCV001195185

NM_032119.4(ADGRV1):c.12335T>G (p.Leu4112Trp)

SNV
Germline

Chr5:90774235

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2C
Usher syndrome type 2C
Febrile seizures, familial, 4
not specified

Criteria Provided
Conflicting Classifications

CA3341217

rs_550815037

4 SubmittersRCV001044689 RCV001155718 RCV002505575 RCV001797816

NM_032119.4(ADGRV1):c.13186G>A (p.Ala4396Thr)

SNV
Germline

Chr5:90781533

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3341457

rs_201154290

3 SubmittersRCV001151954 RCV001047419

NM_032119.4(ADGRV1):c.13550T>C (p.Ile4517Thr)

SNV
Germline

Chr5:90783954

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3341551

rs_748263327

4 SubmittersRCV001044703 RCV001153221 RCV003160329

NM_033056.4(PCDH15):c.5044G>A (p.Glu1682Lys)

SNV
Germline

Chr10:53822682

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1F
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5505134

rs_145499180

4 SubmittersRCV001037665 RCV001272398 RCV001195201 RCV004958370

NM_001384140.1(PCDH15):c.298G>A (p.Gly100Arg)

SNV
Germline

Chr10:54378802

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Usher syndrome type 1F

Criteria Provided
Conflicting Classifications

CA5506746

rs_140716525

3 SubmittersRCV001071208 RCV003490061 RCV001275406

NM_022124.6(CDH23):c.1213G>A (p.Val405Ile)

SNV
Germline

Chr10:71645903

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1
Usher syndrome type 1D
Pituitary adenoma 5, multiple types
Autosomal recessive nonsyndromic hearing loss 12
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA5543733

rs_370549448

6 SubmittersRCV001056694 RCV001275923 RCV002497428 RCV004813642

NM_022124.6(CDH23):c.2968G>A (p.Asp990Asn)

SNV
Germline

Chr10:71706911

Pathogenic/Likely pathogenic

Condition: not provided
Hearing loss, autosomal recessive
Usher syndrome type 1
Pituitary adenoma 5, multiple types
Usher syndrome
Autosomal recessive nonsyndromic hearing loss 12
Pituitary adenoma 5, multiple types
Usher syndrome type 1D

Criteria Provided
Multiple Submitters
No Conflicts

CA5544409

rs_771766431

7 SubmittersRCV001068516 RCV001291209 RCV001827450 RCV003473693 RCV003323792 RCV005047285

NM_022124.6(CDH23):c.3508C>T (p.Arg1170Trp)

SNV
Germline

Chr10:71725449

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA5544750

rs_199866703

4 SubmittersRCV001069819 RCV001272562

NM_022124.6(CDH23):c.3688G>A (p.Val1230Met)

SNV
Germline

Chr10:71730577

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1
Usher syndrome

Criteria Provided
Conflicting Classifications

CA5544806

rs_377358096

3 SubmittersRCV001049323 RCV001272889 RCV003389483

NM_022124.6(CDH23):c.4040C>T (p.Thr1347Met)

SNV
Germline

Chr10:71732311

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA5544892

rs_371125497

3 SubmittersRCV001063308 RCV001273540

NM_022124.6(CDH23):c.4390G>T (p.Ala1464Ser)

SNV
Germline

Chr10:71739674

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA5545035

rs_756674688

3 SubmittersRCV001048503 RCV001273542

NM_022124.6(CDH23):c.6465G>A (p.Ser2155=)

SNV
Germline

Chr10:71793393

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA5546092

rs_373462599

3 SubmittersRCV001057248 RCV001449744 RCV001832516

NM_000260.4(MYO7A):c.61G>A (p.Asp21Asn)

SNV
Germline

Chr11:77142751

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1B

Criteria Provided
Conflicting Classifications

CA6197015

rs_782546306

3 SubmittersRCV001048922 RCV001274686

NM_000260.4(MYO7A):c.548C>T (p.Ser183Leu)

SNV
Germline

Chr11:77156737

Conflicting classifications of pathogenicity

Usher syndrome type 1B
Condition: not provided
not specified
MYO7A-related disorder

Criteria Provided
Conflicting Classifications

CA6197165

rs_781893704

5 SubmittersRCV001275893 RCV001067781 RCV001195388 RCV004536131

NM_000260.4(MYO7A):c.999T>A (p.Tyr333Ter)

SNV
Germline

Chr11:77158426

Pathogenic

Condition: not provided
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA381933307

rs_111033285

2 SubmittersRCV001071737 RCV005056855

NM_000260.4(MYO7A):c.1621C>A (p.Pro541Thr)

SNV
Germline

Chr11:77162919

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6197534

rs_781843594

3 SubmittersRCV001049816 RCV001272495 RCV004649428

NM_000260.4(MYO7A):c.2120G>A (p.Arg707His)

SNV
Germline

Chr11:77175397

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1B

Criteria Provided
Conflicting Classifications

CA6197715

rs_782176754

4 SubmittersRCV001041686 RCV001110700 RCV001110701 RCV001110699 RCV001832403

NM_000260.4(MYO7A):c.2680G>A (p.Glu894Lys)

SNV
Germline

Chr11:77180467

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1B

Criteria Provided
Conflicting Classifications

CA6197895

rs_372366760

3 SubmittersRCV001037676 RCV001272507

NM_000260.4(MYO7A):c.2914C>T (p.Arg972Ter)

SNV
Germline

Chr11:77181960

Pathogenic

Condition: not provided
Usher syndrome type 1
Usher syndrome type 1B
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11

Criteria Provided
Multiple Submitters
No Conflicts

CA6197976

rs_782281371

5 SubmittersRCV001060271 RCV001809972 RCV001832540 RCV002497440

NM_000260.4(MYO7A):c.4040G>A (p.Arg1347His)

SNV
Germline

Chr11:77192166

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
Usher syndrome type 1B
Autosomal dominant nonsyndromic hearing loss 11

Criteria Provided
Conflicting Classifications

CA6198301

rs_756324342

6 SubmittersRCV001037188 RCV001075520 RCV001827221 RCV004821295

NM_000260.4(MYO7A):c.4354C>T (p.Gln1452Ter)

SNV
Germline

Chr11:77197511

Pathogenic

Condition: not provided
Retinal dystrophy
Usher syndrome type 1B

Criteria Provided
Multiple Submitters
No Conflicts

CA6198429

rs_778934538

3 SubmittersRCV001056879 RCV001075422 RCV001832511

NM_000260.4(MYO7A):c.5785C>T (p.Gln1929Ter)

SNV
Germline

Chr11:77207331

Pathogenic

Condition: not provided
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2

Criteria Provided
Multiple Submitters
No Conflicts

CA381954001

rs_1957512851

2 SubmittersRCV001071812 RCV005005031

NM_206933.4(USH2A):c.14968+2T>G

SNV
Germline

Chr1:215640556

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344827548

rs_1656640356

2 SubmittersRCV001063419 RCV005021405

NM_206933.4(USH2A):c.15297+1G>C

SNV
Germline

Chr1:215634458

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome type 2A
Retinal dystrophy
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1392748

rs_767630412

6 SubmittersRCV001048038 RCV001276140 RCV001075770 RCV003446597

NM_001384140.1(PCDH15):c.3501+6C>T

SNV
Germline

Chr10:53903237

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1F

Criteria Provided
Conflicting Classifications

CA5505652

rs_370178425

3 SubmittersRCV001046172 RCV001832437

NM_022124.6(CDH23):c.5924-1G>A

SNV
Germline

Chr10:71790287

Likely pathogenic

Condition: not provided
Usher syndrome type 1

Criteria Provided
Single Submitter

CA377150339

rs_1841212177

2 SubmittersRCV001057883 RCV001832521

NM_001384140.1(PCDH15):c.1441-2A>C

SNV
Germline

Chr10:54183595

Likely pathogenic

Condition: not provided
Usher syndrome type 1F

Criteria Provided
Multiple Submitters
No Conflicts

CA5506367

rs_758482449

3 SubmittersRCV001067733 RCV001827443

NM_000260.4(MYO7A):c.735+3G>A

SNV
Germline

Chr11:77157007

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1B
MYO7A-related disorder

Criteria Provided
Conflicting Classifications

CA6197226

rs_371398512

4 SubmittersRCV001064523 RCV001274693 RCV004545039

NM_206933.4(USH2A):c.14557A>G (p.Met4853Val)

SNV
Germline

Chr1:215648553

Conflicting classifications of pathogenicity

Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
not specified

Criteria Provided
Conflicting Classifications

CA1392996

rs_753594462

6 SubmittersRCV001074676 RCV001593254 RCV001833687 RCV003230634

NM_206933.4(USH2A):c.14369A>C (p.Gln4790Pro)

SNV
Germline

Chr1:215648741

Conflicting classifications of pathogenicity

Retinal dystrophy
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA37390502

rs_149807281

7 SubmittersRCV001073804 RCV001376409 RCV001828535 RCV001245666 RCV002557899 RCV004587040

NM_206933.4(USH2A):c.13567G>T (p.Val4523Phe)

SNV
Germline

Chr1:215674344

Conflicting classifications of pathogenicity

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA344844569

rs_746442849

3 SubmittersRCV001073309 RCV001862801 RCV003455312 RCV003455311

NM_206933.4(USH2A):c.13348C>T (p.Pro4450Ser)

SNV
Germline

Chr1:215674563

Conflicting classifications of pathogenicity

Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA1393307

rs_141696914

4 SubmittersRCV001074021 RCV001862816 RCV001810494 RCV005012538

NM_206933.4(USH2A):c.12560G>A (p.Arg4187His)

SNV
Germline

Chr1:215675351

Conflicting classifications of pathogenicity

Retinal dystrophy
Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA1393450

rs_147304271

5 SubmittersRCV001073233 RCV002480448 RCV001245929 RCV001828533

NM_206933.4(USH2A):c.11156G>T (p.Arg3719Leu)

SNV
Germline

Chr1:215759735

Conflicting classifications of pathogenicity

Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA1393801

rs_527236139

5 SubmittersRCV001376388 RCV003455351 RCV001074265 RCV005021430

NM_206933.4(USH2A):c.9992T>A (p.Met3331Lys)

SNV
Germline

Chr1:215790249

Conflicting classifications of pathogenicity

Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1394156

rs_141452179

5 SubmittersRCV001073240 RCV001226170 RCV001833681 RCV003455307 RCV005286310

NM_206933.4(USH2A):c.9691C>T (p.Gln3231Ter)

SNV
Germline

Chr1:215813784

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA344821678

rs_1662771528

4 SubmittersRCV001074877 RCV002557918 RCV003455386 RCV005236587

NM_206933.4(USH2A):c.5959T>A (p.Tyr1987Asn)

SNV
Germline

Chr1:216070191

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 39
Retinal dystrophy
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA1395289

rs_747652397

5 SubmittersRCV001862836 RCV003455373 RCV001074681 RCV002489722 RCV003455372

NM_206933.4(USH2A):c.5506C>A (p.Pro1836Thr)

SNV
Germline

Chr1:216078155

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Usher syndrome
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344855891

rs_755032078

4 SubmittersRCV001204740 RCV001074741 RCV005418987 RCV003455374

NM_206933.4(USH2A):c.5447T>G (p.Val1816Gly)

SNV
Germline

Chr1:216078214

Conflicting classifications of pathogenicity

Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA344856138

rs_777011507

3 SubmittersRCV001073280 RCV002554652 RCV005012535

NM_206933.4(USH2A):c.4576G>A (p.Gly1526Arg)

SNV
Germline

Chr1:216175303

Pathogenic

Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1395688

rs_769198746

5 SubmittersRCV001075822 RCV001381658 RCV002250723 RCV003455425

NM_206933.4(USH2A):c.4133T>C (p.Leu1378Pro)

SNV
Germline

Chr1:216196671

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA344866571

rs_2034852728

7 SubmittersRCV001074304 RCV001243846 RCV002471033 RCV004570315 RCV003323795

NM_206933.4(USH2A):c.2187C>A (p.Cys729Ter)

SNV
Germline

Chr1:216247207

Pathogenic/Likely pathogenic

Retinal dystrophy
Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA1396268

rs_757154662

7 SubmittersRCV001074494 RCV001809978 RCV003455368 RCV001385356

NM_206933.4(USH2A):c.2087G>T (p.Cys696Phe)

SNV
Germline

Chr1:216250983

Conflicting classifications of pathogenicity

Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
not specified
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA344866349

rs_1352007983

4 SubmittersRCV001073592 RCV001862507 RCV003455328 RCV004689987 RCV003455329

NM_206933.4(USH2A):c.1236G>A (p.Trp412Ter)

SNV
Germline

Chr1:216324260

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA344911713

rs_757525434

2 SubmittersRCV004527411 RCV001073302

NM_032119.4(ADGRV1):c.2277T>A (p.Tyr759Ter)

SNV
Germline

Chr5:90642672

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Febrile seizures, familial, 4
Usher syndrome type 2C

Criteria Provided
Multiple Submitters
No Conflicts

CA360387273

rs_1185617030

3 SubmittersRCV001073400 RCV001231169 RCV005047289

NM_032119.4(ADGRV1):c.6017G>T (p.Gly2006Val)

SNV
Germline

Chr5:90683938

Conflicting classifications of pathogenicity

Retinal dystrophy
Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3339694

rs_768201036

3 SubmittersRCV001075537 RCV001154483 RCV001303820

NM_032119.4(ADGRV1):c.6849C>T (p.Gly2283=)

SNV
Germline

Chr5:90690939

Conflicting classifications of pathogenicity

Retinal dystrophy
Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3339887

rs_374348614

3 SubmittersRCV001073810 RCV001151570 RCV002554680

NM_032119.4(ADGRV1):c.7519A>G (p.Thr2507Ala)

SNV
Germline

Chr5:90694275

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
Usher syndrome type 2C

Criteria Provided
Conflicting Classifications

CA3340049

rs_368806892

3 SubmittersRCV001862549 RCV001074289 RCV001334323

NM_032119.4(ADGRV1):c.18217G>A (p.Val6073Met)

SNV
Germline

Chr5:91072511

Conflicting classifications of pathogenicity

Retinal dystrophy
Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3342595

rs_377173958

5 SubmittersRCV001074000 RCV001157756 RCV001351121

NM_000260.4(MYO7A):c.1052C>A (p.Ser351Ter)

SNV
Germline

Chr11:77159495

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2

Criteria Provided
Multiple Submitters
No Conflicts

CA381933994

rs_782639389

3 SubmittersRCV001073269 RCV003558648 RCV005012534

NM_000260.4(MYO7A):c.3862G>C (p.Ala1288Pro)

SNV
Germline

Chr11:77190808

Likely pathogenic

Retinal dystrophy
Condition: not provided
Usher syndrome
Nonsyndromic genetic hearing loss
Usher syndrome type 1

Reviewed By Expert Panel

CA6198221

rs_749747871

8 SubmittersRCV001075168 RCV001339495 RCV003387963 RCV003117740 RCV003227909

NM_000260.4(MYO7A):c.5749G>T (p.Glu1917Ter)

SNV
Germline

Chr11:77207295

Pathogenic/Likely pathogenic

Retinal dystrophy
Usher syndrome type 1B
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA224854968

rs_780609120

6 SubmittersRCV001074577 RCV001828538 RCV001248517

NM_206933.4(USH2A):c.14791+5G>T

SNV
Germline

Chr1:215647517

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA529002106

rs_1235430504

5 SubmittersRCV002557903 RCV003446607 RCV005012539 RCV001074063 RCV003448367

NM_206933.4(USH2A):c.3317-2A>G

SNV
Germline

Chr1:216200123

Pathogenic

Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344869184

rs_2034951427

5 SubmittersRCV001075303 RCV001386858 RCV001828541 RCV003446614

NM_032119.4(ADGRV1):c.9907-1G>A

SNV
Germline

Chr5:90725085

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Febrile seizures, familial, 4
Usher syndrome type 2C

Criteria Provided
Multiple Submitters
No Conflicts

CA3340627

rs_769286352

4 SubmittersRCV001075697 RCV001572562 RCV002505667

NM_022124.6(CDH23):c.8065-5C>A

SNV
Germline

Chr10:71806163

Conflicting classifications of pathogenicity

Retinal dystrophy
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Condition: not provided
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA5546541

rs_561693723

4 SubmittersRCV001075186 RCV001105934 RCV001105933 RCV001239317 RCV001836117

NM_022124.6(CDH23):c.9198+2T>A

SNV
Germline

Chr10:71811437

Likely pathogenic

Retinal dystrophy
Autosomal recessive nonsyndromic hearing loss 12
Pituitary adenoma 5, multiple types
Usher syndrome type 1D

Criteria Provided
Multiple Submitters
No Conflicts

CA377135024

rs_1841921374

2 SubmittersRCV001075252 RCV005047298

NM_206933.4(USH2A):c.11464T>C (p.Ser3822Pro)

SNV
Germline

Chr1:215743261

Conflicting classifications of pathogenicity

Usher syndrome type 2A
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1393703

rs_201961789

3 SubmittersRCV001078203 RCV001473362 RCV003890232

NM_206933.4(USH2A):c.3686T>G (p.Leu1229Ter)

SNV
Germline

Chr1:216199752

Pathogenic/Likely pathogenic

Condition: not provided
USH2A-related disorder
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344867902

rs_2034938852

5 SubmittersRCV001231261 RCV001095691 RCV003455443 RCV003455444 RCV005021440

NM_206933.4(USH2A):c.4627+641G>A

SNV
Germline

Chr1:216174611

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Usher syndrome type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA37492377

rs_146153666

2 SubmittersRCV001100306 RCV001100307 RCV001840783

NM_206933.4(USH2A):c.4627+48A>T

SNV
Germline

Chr1:216175204

Conflicting classifications of pathogenicity

Usher syndrome type 2A
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1395668

rs_74874838

2 SubmittersRCV001100415 RCV001100416 RCV001550447

NM_206933.4(USH2A):c.4627+10T>C

SNV
Germline

Chr1:216175242

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA1395681

rs_148657311

2 SubmittersRCV001395518 RCV001102383 RCV001102382

NM_206933.4(USH2A):c.3660A>G (p.Val1220=)

SNV
Germline

Chr1:216199778

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Usher syndrome type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA423431409

rs_2034940102

2 SubmittersRCV001098832 RCV001098831 RCV001421393

NM_206933.4(USH2A):c.1704C>T (p.Tyr568=)

SNV
Germline

Chr1:216292311

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1396421

rs_766038321

3 SubmittersRCV001101106 RCV001101107 RCV001578843 RCV002069695

NM_206933.4(USH2A):c.1972-4C>T

SNV
Germline

Chr1:216251102

Conflicting classifications of pathogenicity

Usher syndrome type 2A
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1396337

rs_772294505

2 SubmittersRCV001099032 RCV001099031 RCV001506006

NM_033056.4(PCDH15):c.5510C>T (p.Ser1837Phe)

SNV
Germline

Chr10:53822216

Conflicting classifications of pathogenicity

Usher syndrome type 1
Condition: not provided
Usher syndrome type 1F

Criteria Provided
Conflicting Classifications

CA5505020

rs_140047846

5 SubmittersRCV001104787 RCV001223316 RCV001833703

NM_001384140.1(PCDH15):c.4275A>C (p.Ala1425=)

SNV
Germline

Chr10:53827485

Conflicting classifications of pathogenicity

Usher syndrome type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5505383

rs_774100942

2 SubmittersRCV001102954 RCV001424952

NM_001384140.1(PCDH15):c.2685G>C (p.Leu895=)

SNV
Germline

Chr10:54020258

Conflicting classifications of pathogenicity

Usher syndrome type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5505963

rs_759471464

2 SubmittersRCV001103054 RCV001469878

NM_001384140.1(PCDH15):c.1997C>T (p.Thr666Ile)

SNV
Germline

Chr10:54089984

Conflicting classifications of pathogenicity

Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 23
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5506183

rs_146121822

4 SubmittersRCV001104969 RCV004689991 RCV002292605

NM_001384140.1(PCDH15):c.1780C>A (p.Arg594=)

SNV
Germline

Chr10:54153104

Conflicting classifications of pathogenicity

Usher syndrome type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA469494111

rs_1252259548

2 SubmittersRCV001106124 RCV002069749

NM_001384140.1(PCDH15):c.1179A>G (p.Pro393=)

SNV
Germline

Chr10:54195809

Conflicting classifications of pathogenicity

Usher syndrome type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA469493930

rs_1484114119

2 SubmittersRCV001103158 RCV002069718

NM_001384140.1(PCDH15):c.400C>A (p.Arg134=)

SNV
Germline

Chr10:54369194

Conflicting classifications of pathogenicity

Usher syndrome type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5506705

rs_137853003

2 SubmittersRCV001108429 RCV002069768

NM_001384140.1(PCDH15):c.146A>G (p.Glu49Gly)

SNV
Germline

Chr10:54527823

Conflicting classifications of pathogenicity

Usher syndrome type 1
Usher syndrome type 1F
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5506788

rs_184026653

4 SubmittersRCV001108430 RCV001279012 RCV002555058

NM_001384140.1(PCDH15):c.8G>A (p.Arg3Gln)

SNV
Germline

Chr10:54664255

Conflicting classifications of pathogenicity

Usher syndrome type 1
Condition: not provided
Usher syndrome type 1F
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5506911

rs_372085398

4 SubmittersRCV001103249 RCV001340599 RCV001828551 RCV002558034

NM_022124.6(CDH23):c.789G>A (p.Gln263=)

SNV
Germline

Chr10:71577949

Conflicting classifications of pathogenicity

Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5543554

rs_772466142

2 SubmittersRCV001106129 RCV001106130 RCV002069750

NM_022124.6(CDH23):c.3069C>T (p.Asp1023=)

SNV
Germline

Chr10:71707012

Conflicting classifications of pathogenicity

Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5544439

rs_778344637

2 SubmittersRCV001105452 RCV001105451 RCV001506803

NM_022124.6(CDH23):c.3678G>A (p.Thr1226=)

SNV
Germline

Chr10:71730567

Conflicting classifications of pathogenicity

Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5544800

rs_774716336

2 SubmittersRCV001108868 RCV001108869 RCV001432389

NM_022124.6(CDH23):c.4275G>A (p.Ala1425=)

SNV
Germline

Chr10:71738563

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Condition: not provided
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA5545000

rs_369559033

3 SubmittersRCV001103800 RCV001103801 RCV001217524 RCV001833702

NM_022124.6(CDH23):c.4356G>A (p.Gly1452=)

SNV
Germline

Chr10:71738644

Conflicting classifications of pathogenicity

Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Condition: not provided

Criteria Provided
Conflicting Classifications

CA470068782

rs_1564768174

2 SubmittersRCV001105743 RCV001105742 RCV002069740

NM_022124.6(CDH23):c.4762C>T (p.Arg1588Trp)

SNV
Germline

Chr10:71741838

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 12
Condition: not provided
Pituitary adenoma 5, multiple types
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Usher syndrome
Pituitary adenoma 5, multiple types

Criteria Provided
Conflicting Classifications

CA5545144

rs_137937502

8 SubmittersRCV001103916 RCV001241939 RCV005047309 RCV004782651 RCV003473716

NM_022124.6(CDH23):c.5721C>A (p.Ile1907=)

SNV
Germline

Chr10:71785639

Conflicting classifications of pathogenicity

Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Condition: not provided

Criteria Provided
Conflicting Classifications

CA209458142

rs_777270336

2 SubmittersRCV001107808 RCV001107809 RCV002069762

NM_022124.6(CDH23):c.5970A>G (p.Ala1990=)

SNV
Germline

Chr10:71790334

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5545951

rs_542473653

2 SubmittersRCV001104489 RCV001104490 RCV002069727

NM_022124.6(CDH23):c.7050G>A (p.Ser2350=)

SNV
Germline

Chr10:71798574

Conflicting classifications of pathogenicity

Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5546237

rs_761613739

2 SubmittersRCV001102756 RCV001102757 RCV001456006

NM_022124.6(CDH23):c.7461C>T (p.Asn2487=)

SNV
Germline

Chr10:71800734

Conflicting classifications of pathogenicity

Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5546352

rs_747310070

2 SubmittersRCV001105843 RCV001105844 RCV002556081

NM_022124.6(CDH23):c.9933G>A (p.Ser3311=)

SNV
Germline

Chr10:71815146

Conflicting classifications of pathogenicity

Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5547218

rs_367684899

2 SubmittersRCV001106304 RCV001106303 RCV001415414

NM_022124.6(CDH23):c.*173C>T

SNV
Germline

Chr10:71815451

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Condition: not provided

Criteria Provided
Conflicting Classifications

CA209449380

rs_143222936

2 SubmittersRCV001106404 RCV001106403 RCV001593269

NM_153676.4(USH1C):c.2541T>C (p.Asp847=)

SNV
Germline

Chr11:17496763

Conflicting classifications of pathogenicity

Usher syndrome type 1C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA473304421

rs_1849262183

2 SubmittersRCV001108477 RCV003769110

NM_153676.4(USH1C):c.2253G>A (p.Lys751=)

SNV
Germline

Chr11:17501509

Conflicting classifications of pathogenicity

Usher syndrome type 1C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5904262

rs_751998841

2 SubmittersRCV001105203 RCV001416724

NM_001384140.1(PCDH15):c.986-11A>G

SNV
Germline

Chr10:54214059

Conflicting classifications of pathogenicity

Usher syndrome type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5506517

rs_374641355

2 SubmittersRCV001105071 RCV002069734

NM_022124.6(CDH23):c.1140+14T>C

SNV
Germline

Chr10:71643880

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5543673

rs_376753769

2 SubmittersRCV001106211 RCV001106212 RCV001516740

NM_022124.6(CDH23):c.3106+11G>A

SNV
Germline

Chr10:71707060

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Condition: not provided
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA5544447

rs_759689776

3 SubmittersRCV001106597 RCV001106598 RCV001452591 RCV001828556

NM_022124.6(CDH23):c.4210-12G>A

SNV
Germline

Chr10:71738486

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Condition: not provided

Criteria Provided
Conflicting Classifications

CA668095702

rs_115948943

2 SubmittersRCV001103799 RCV001107424 RCV002069723

NM_022124.6(CDH23):c.7225-11C>G

SNV
Germline

Chr10:71799481

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Condition: not provided

Criteria Provided
Conflicting Classifications

CA594706003

rs_1393666972

2 SubmittersRCV001104676 RCV001104677 RCV003736978

NM_022124.6(CDH23):c.8064+13C>A

SNV
Germline

Chr10:71806010

Conflicting classifications of pathogenicity

Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5546523

rs_374981343

2 SubmittersRCV001105932 RCV001105931 RCV002069745

NM_022124.6(CDH23):c.9510+14G>A

SNV
Germline

Chr10:71812623

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5547104

rs_188563959

2 SubmittersRCV001106218 RCV001106217 RCV001452971

NM_022124.6(CDH23):c.9510+14G>T

SNV
Germline

Chr10:71812623

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1139661499

rs_188563959

2 SubmittersRCV001106220 RCV001106219 RCV005093498

NM_022124.6(CDH23):c.9633+14G>A

SNV
Germline

Chr10:71812904

Conflicting classifications of pathogenicity

Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5547141

rs_376672264

2 SubmittersRCV001108440 RCV001108439 RCV002069769

NM_153676.4(USH1C):c.1085+7A>G

SNV
Germline

Chr11:17521339

Conflicting classifications of pathogenicity

Usher syndrome type 1C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA218454364

rs_1025205332

2 SubmittersRCV001106338 RCV002069752

NM_000260.4(MYO7A):c.495G>A (p.Thr165=)

SNV
Germline

Chr11:77156684

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6197158

rs_532833627

2 SubmittersRCV001111772 RCV001111774 RCV001111773 RCV001862884

NM_000260.4(MYO7A):c.741G>A (p.Leu247=)

SNV
Germline

Chr11:77157284

Conflicting classifications of pathogenicity

Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA475792663

rs_1555063817

2 SubmittersRCV001111840 RCV001111842 RCV001111841 RCV003769127

NM_000260.4(MYO7A):c.813C>T (p.Gly271=)

SNV
Germline

Chr11:77157356

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6197256

rs_781810349

2 SubmittersRCV001112310 RCV001112311 RCV001113654 RCV001478941

NM_000260.4(MYO7A):c.1970G>A (p.Arg657Gln)

SNV
Germline

Chr11:77174790

Conflicting classifications of pathogenicity

Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6197656

rs_375457812

3 SubmittersRCV001113933 RCV001113934 RCV001113935 RCV001856501

NM_000260.4(MYO7A):c.2598C>T (p.Arg866=)

SNV
Germline

Chr11:77180385

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA6197874

rs_375968860

4 SubmittersRCV001114118 RCV001114119 RCV001114120 RCV001288312 RCV001195464

NM_000260.4(MYO7A):c.2755G>A (p.Ala919Thr)

SNV
Germline

Chr11:77181440

Conflicting classifications of pathogenicity

Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Condition: not provided
Usher syndrome type 1B

Criteria Provided
Conflicting Classifications

CA224841472

rs_782787324

4 SubmittersRCV001110852 RCV001110853 RCV001112842 RCV001245665 RCV001833710

NM_000260.4(MYO7A):c.3594C>T (p.Cys1198=)

SNV
Germline

Chr11:77189434

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6198122

rs_782694195

3 SubmittersRCV001110265 RCV001111009 RCV001111008 RCV001279791 RCV001476549

NM_000260.4(MYO7A):c.4476C>T (p.Ala1492=)

SNV
Germline

Chr11:77198529

Conflicting classifications of pathogenicity

Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6198458

rs_777008254

2 SubmittersRCV001114559 RCV001114558 RCV001114560 RCV001499717

NM_000260.4(MYO7A):c.4689G>A (p.Ala1563=)

SNV
Germline

Chr11:77199655

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6198521

rs_759430551

2 SubmittersRCV001113297 RCV001113298 RCV001113299 RCV002556210

NM_000260.4(MYO7A):c.5397C>A (p.Ile1799=)

SNV
Germline

Chr11:77204146

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA475797043

rs_1957274964

2 SubmittersRCV001111579 RCV001112051 RCV001112052 RCV001471251

NM_000260.4(MYO7A):c.5589C>T (p.His1863=)

SNV
Germline

Chr11:77205570

Conflicting classifications of pathogenicity

Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided
MYO7A-related disorder

Criteria Provided
Conflicting Classifications

CA6198751

rs_727504024

3 SubmittersRCV001114995 RCV001114996 RCV001114997 RCV002069850 RCV004545068

NM_000260.4(MYO7A):c.6111G>A (p.Leu2037=)

SNV
Germline

Chr11:77211211

Conflicting classifications of pathogenicity

Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6198938

rs_185061452

2 SubmittersRCV001113658 RCV001113659 RCV001113660 RCV001435998

NM_000260.4(MYO7A):c.*38G>A

SNV
Germline

Chr11:77214734

Conflicting classifications of pathogenicity

Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA6199153

rs_149296177

1 SubmittersRCV001110525 RCV001110526 RCV001110527

NM_000260.4(MYO7A):c.*392A>G

SNV
Germline

Chr11:77215088

Conflicting classifications of pathogenicity

Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA224830899

rs_144527614

3 SubmittersRCV001109822 RCV001109823 RCV001110611 RCV001786434

NM_000260.4(MYO7A):c.*416C>T

SNV
Germline

Chr11:77215112

Conflicting classifications of pathogenicity

Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA224830907

rs_549702559

1 SubmittersRCV001110612 RCV001110614 RCV001110613

NM_000260.4(MYO7A):c.1201-12A>G

SNV
Germline

Chr11:77160961

Conflicting classifications of pathogenicity

Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6197422

rs_542772429

2 SubmittersRCV001112403 RCV001112402 RCV001112404 RCV002069813

NM_000260.4(MYO7A):c.1797+13C>T

SNV
Germline

Chr11:77166175

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6197593

rs_782461418

2 SubmittersRCV001109818 RCV001109816 RCV001109817 RCV001856467

NM_000260.4(MYO7A):c.3109-15C>T

SNV
Germline

Chr11:77182409

Conflicting classifications of pathogenicity

Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA381944438

rs_369729874

2 SubmittersRCV001110925 RCV001110926 RCV001110924 RCV003558673

NM_000260.4(MYO7A):c.3375+12C>T

SNV
Germline

Chr11:77183169

Conflicting classifications of pathogenicity

Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6198035

rs_781935881

2 SubmittersRCV001114280 RCV001114282 RCV001114281 RCV001417990

NM_173477.5(USH1G):c.*680C>G

SNV
Germline

Chr17:74917393

Conflicting classifications of pathogenicity

Usher syndrome type 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA293981893

rs_55744500

3 SubmittersRCV001127383 RCV003413933

NM_173477.5(USH1G):c.327C>T (p.Gly109=)

SNV
Germline

Chr17:74920509

Conflicting classifications of pathogenicity

Usher syndrome type 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA502037141

rs_2038930076

2 SubmittersRCV001127507 RCV003117772

NM_173477.5(USH1G):c.126T>C (p.His42=)

SNV
Germline

Chr17:74922948

Conflicting classifications of pathogenicity

Usher syndrome type 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA501765269

rs_1394276163

2 SubmittersRCV001127508 RCV002556789

NM_017950.4(CCDC40):c.1898G>A (p.Arg633Gln)

SNV
Germline

Chr17:80081967

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 15
Usher syndrome
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA8814048

rs_759468416

4 SubmittersRCV001127969 RCV003389486 RCV003769225

NM_174878.3(CLRN1):c.411G>A (p.Leu137=)

SNV
Germline

Chr3:150941604

Conflicting classifications of pathogenicity

Usher syndrome type 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA436265231

rs_1713844994

2 SubmittersRCV001146709 RCV002557143

NM_032119.4(ADGRV1):c.137C>T (p.Thr46Ile)

SNV
Germline

Chr5:90614949

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3338392

rs_754162988

3 SubmittersRCV001152777 RCV003433049

NM_032119.4(ADGRV1):c.170G>A (p.Arg57Lys)

SNV
Germline

Chr5:90614982

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA121805483

rs_956307189

4 SubmittersRCV001152778 RCV003769732 RCV005550145

NM_032119.4(ADGRV1):c.409A>G (p.Ile137Val)

SNV
Germline

Chr5:90619137

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3338461

rs_575602255

4 SubmittersRCV001154049 RCV002070882 RCV003259125

NM_032119.4(ADGRV1):c.686A>G (p.Asp229Gly)

SNV
Germline

Chr5:90627224

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3338546

rs_200541858

5 SubmittersRCV001154053 RCV001301953 RCV002557311

NM_032119.4(ADGRV1):c.940G>A (p.Ala314Thr)

SNV
Germline

Chr5:90627478

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3338584

rs_533540279

4 SubmittersRCV001154894 RCV001760111 RCV003235481

NM_032119.4(ADGRV1):c.961G>T (p.Asp321Tyr)

SNV
Germline

Chr5:90627499

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3338586

rs_779442763

2 SubmittersRCV001154895 RCV003558723

NM_032119.4(ADGRV1):c.1419T>G (p.Asp473Glu)

SNV
Germline

Chr5:90628742

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3338685

rs_771484121

3 SubmittersRCV001156565 RCV001362344

NM_032119.4(ADGRV1):c.1578G>T (p.Gln526His)

SNV
Germline

Chr5:90629278

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3338720

rs_199701878

2 SubmittersRCV001156568 RCV002557336

NM_032119.4(ADGRV1):c.2039A>G (p.Asp680Gly)

SNV
Germline

Chr5:90637747

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3338821

rs_547076322

3 SubmittersRCV001154170 RCV002557314 RCV003155363

NM_032119.4(ADGRV1):c.2330A>C (p.Glu777Ala)

SNV
Germline

Chr5:90642725

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3338893

rs_78627723

2 SubmittersRCV001154175 RCV001230089

NM_032119.4(ADGRV1):c.2340T>C (p.Pro780=)

SNV
Germline

Chr5:90642735

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA445406558

rs_1486650258

2 SubmittersRCV001154176 RCV002557315

NM_032119.4(ADGRV1):c.2409G>T (p.Gly803=)

SNV
Germline

Chr5:90642897

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3338926

rs_746915145

2 SubmittersRCV001155008 RCV001434402

NM_032119.4(ADGRV1):c.2412C>T (p.Ser804=)

SNV
Germline

Chr5:90642900

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA445407639

rs_1393079124

2 SubmittersRCV001155009 RCV002070898

NM_032119.4(ADGRV1):c.2590G>A (p.Gly864Arg)

SNV
Germline

Chr5:90643839

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3338974

rs_572283380

2 SubmittersRCV001155012 RCV002032428

NM_032119.4(ADGRV1):c.2666T>C (p.Ile889Thr)

SNV
Germline

Chr5:90643915

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3338983

rs_780130028

2 SubmittersRCV001156666 RCV002559505

NM_032119.4(ADGRV1):c.2926G>A (p.Val976Ile)

SNV
Germline

Chr5:90645995

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3339063

rs_752969941

2 SubmittersRCV001156670 RCV001341294

NM_032119.4(ADGRV1):c.3129G>A (p.Gly1043=)

SNV
Germline

Chr5:90647604

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3339108

rs_753443586

2 SubmittersRCV001156673 RCV003679044

NM_032119.4(ADGRV1):c.3969T>C (p.Ser1323=)

SNV
Germline

Chr5:90653543

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA445465919

rs_1175349754

2 SubmittersRCV001155123 RCV003669207

NM_032119.4(ADGRV1):c.3993C>T (p.Thr1331=)

SNV
Germline

Chr5:90653567

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2C

Criteria Provided
Conflicting Classifications

CA3339277

rs_566196345

3 SubmittersRCV001412666 RCV001156782

NM_032119.4(ADGRV1):c.3996A>G (p.Gly1332=)

SNV
Germline

Chr5:90653570

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3339279

rs_763406021

2 SubmittersRCV001156783 RCV001489810

NM_032119.4(ADGRV1):c.4118C>T (p.Ala1373Val)

SNV
Germline

Chr5:90653692

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3339292

rs_187139957

2 SubmittersRCV001156785 RCV002032447

NM_032119.4(ADGRV1):c.4171G>A (p.Glu1391Lys)

SNV
Germline

Chr5:90653745

Conflicting classifications of pathogenicity

Usher syndrome type 2C
not specified
Condition: not provided
ADGRV1-related disorder

Criteria Provided
Conflicting Classifications

CA3339299

rs_766007827

4 SubmittersRCV001156789 RCV001195223 RCV001236644 RCV004738173

NM_032119.4(ADGRV1):c.4770A>G (p.Ser1590=)

SNV
Germline

Chr5:90672563

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2C

Criteria Provided
Conflicting Classifications

CA3339411

rs_144401211

3 SubmittersRCV002070890 RCV001154376

NM_032119.4(ADGRV1):c.4851T>C (p.Thr1617=)

SNV
Germline

Chr5:90672644

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3339420

rs_368303691

2 SubmittersRCV001154377 RCV001498209

NM_032119.4(ADGRV1):c.4878C>T (p.Asp1626=)

SNV
Germline

Chr5:90672671

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3339428

rs_755906427

2 SubmittersRCV001154378 RCV002557317

NM_032119.4(ADGRV1):c.4952A>G (p.Asp1651Gly)

SNV
Germline

Chr5:90674076

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3339454

rs_746118976

2 SubmittersRCV001154382 RCV003769737

NM_032119.4(ADGRV1):c.5657C>G (p.Thr1886Arg)

SNV
Germline

Chr5:90681447

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3339628

rs_199959482

2 SubmittersRCV001156881 RCV001230332

NM_032119.4(ADGRV1):c.5739C>T (p.Leu1913=)

SNV
Germline

Chr5:90683660

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA445466725

rs_1445702123

2 SubmittersRCV001156884 RCV001419125

NM_032119.4(ADGRV1):c.5785G>A (p.Ala1929Thr)

SNV
Germline

Chr5:90683706

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3339662

rs_41311335

2 SubmittersRCV001151457 RCV001312654

NM_032119.4(ADGRV1):c.6235C>T (p.Leu2079Phe)

SNV
Germline

Chr5:90684156

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3339729

rs_529727564

2 SubmittersRCV001155311 RCV003769741

NM_032119.4(ADGRV1):c.6313A>G (p.Ile2105Val)

SNV
Germline

Chr5:90685818

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3339754

rs_371849392

3 SubmittersRCV001155313 RCV001300881 RCV003259127

NM_032119.4(ADGRV1):c.6526T>A (p.Leu2176Met)

SNV
Germline

Chr5:90689896

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3339821

rs_772875455

2 SubmittersRCV001156986 RCV003708581

NM_032119.4(ADGRV1):c.6599C>G (p.Ser2200Cys)

SNV
Germline

Chr5:90689969

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3339837

rs_771621314

3 SubmittersRCV001156987 RCV003769751 RCV005550147

NM_032119.4(ADGRV1):c.6772A>G (p.Ile2258Val)

SNV
Germline

Chr5:90690862

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3339871

rs_745642201

2 SubmittersRCV001156991 RCV003558724

NM_032119.4(ADGRV1):c.7527A>G (p.Gln2509=)

SNV
Germline

Chr5:90694283

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3340050

rs_772103054

2 SubmittersRCV001155421 RCV001522593

NM_032119.4(ADGRV1):c.7684C>A (p.Gln2562Lys)

SNV
Germline

Chr5:90694440

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3340071

rs_746214033

2 SubmittersRCV001155424 RCV001242117

NM_032119.4(ADGRV1):c.7754T>C (p.Ile2585Thr)

SNV
Germline

Chr5:90694510

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA360381296

rs_1229881653

3 SubmittersRCV001157101 RCV001230365 RCV002558370

NM_032119.4(ADGRV1):c.7866C>T (p.Val2622=)

SNV
Germline

Chr5:90694622

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3340104

rs_756284324

2 SubmittersRCV001157103 RCV001480263

NM_032119.4(ADGRV1):c.8034T>G (p.Thr2678=)

SNV
Germline

Chr5:90697025

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3340150

rs_200712751

3 SubmittersRCV001151656 RCV001470395

NM_032119.4(ADGRV1):c.8068A>G (p.Thr2690Ala)

SNV
Germline

Chr5:90697059

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3340155

rs_765530046

3 SubmittersRCV001151657 RCV003769725 RCV004702657

NM_032119.4(ADGRV1):c.8091C>T (p.Ala2697=)

SNV
Germline

Chr5:90697082

Conflicting classifications of pathogenicity

Usher syndrome type 2C
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3340160

rs_556164327

3 SubmittersRCV001151658 RCV001195318 RCV001510651

NM_032119.4(ADGRV1):c.8169A>G (p.Gln2723=)

SNV
Germline

Chr5:90703678

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA122802247

rs_1026514423

2 SubmittersRCV001151662 RCV001470469

NM_032119.4(ADGRV1):c.8488C>G (p.Leu2830Val)

SNV
Germline

Chr5:90705501

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Usher syndrome type 2C
Febrile seizures, familial, 4
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3340274

rs_555466095

5 SubmittersRCV001154701 RCV002480558 RCV001231714 RCV003259126

NM_032119.4(ADGRV1):c.8668A>G (p.Ile2890Val)

SNV
Germline

Chr5:90706332

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3340311

rs_768539100

2 SubmittersRCV001155527 RCV002032434

NM_032119.4(ADGRV1):c.8769T>C (p.Asn2923=)

SNV
Germline

Chr5:90708854

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3340347

rs_753086932

2 SubmittersRCV001155529 RCV001451440

NM_032119.4(ADGRV1):c.8778C>T (p.Tyr2926=)

SNV
Germline

Chr5:90708863

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3340349

rs_375310575

2 SubmittersRCV001155530 RCV001497579

NM_032119.4(ADGRV1):c.9763G>A (p.Val3255Met)

SNV
Germline

Chr5:90724846

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3340594

rs_776345555

2 SubmittersRCV001151756 RCV002032399

NM_032119.4(ADGRV1):c.9765G>A (p.Val3255=)

SNV
Germline

Chr5:90724848

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA122808906

rs_1051488396

2 SubmittersRCV001151757 RCV003698843

NM_032119.4(ADGRV1):c.10308A>T (p.Arg3436Ser)

SNV
Germline

Chr5:90728815

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3340725

rs_559004744

2 SubmittersRCV001155640 RCV001859016

NM_032119.4(ADGRV1):c.10362A>G (p.Thr3454=)

SNV
Germline

Chr5:90728869

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA445415116

rs_1325751815

2 SubmittersRCV001155641 RCV003708580

NM_032119.4(ADGRV1):c.11390C>T (p.Thr3797Ile)

SNV
Germline

Chr5:90754995

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3340968

rs_375025827

3 SubmittersRCV001157315 RCV001320028

NM_032119.4(ADGRV1):c.11457A>G (p.Gln3819=)

SNV
Germline

Chr5:90755062

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA445404075

rs_1312477726

3 SubmittersRCV001151865 RCV001417308 RCV004526808

NM_032119.4(ADGRV1):c.11760C>T (p.Gly3920=)

SNV
Germline

Chr5:90756981

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3341053

rs_374165491

2 SubmittersRCV001153104 RCV001477954

NM_032119.4(ADGRV1):c.11950A>G (p.Met3984Val)

SNV
Germline

Chr5:90759418

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA360373188

rs_1756212683

2 SubmittersRCV001153107 RCV004609640

NM_032119.4(ADGRV1):c.11954T>C (p.Ile3985Thr)

SNV
Germline

Chr5:90759422

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3341100

rs_78833918

3 SubmittersRCV001153108 RCV001364911

NM_032119.4(ADGRV1):c.12291G>A (p.Glu4097=)

SNV
Germline

Chr5:90774191

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA445410030

rs_1757979533

2 SubmittersRCV001155717 RCV002070915

NM_032119.4(ADGRV1):c.13718C>T (p.Ala4573Val)

SNV
Germline

Chr5:90788135

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3341593

rs_749839670

3 SubmittersRCV001155814 RCV003769748 RCV004587054

NM_032119.4(ADGRV1):c.13722C>T (p.Asp4574=)

SNV
Germline

Chr5:90788139

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided
ADGRV1-related disorder

Criteria Provided
Conflicting Classifications

CA3341595

rs_367768061

3 SubmittersRCV001155815 RCV001444178 RCV004548033

NM_032119.4(ADGRV1):c.13868C>T (p.Ser4623Phe)

SNV
Germline

Chr5:90788285

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3341629

rs_766619723

2 SubmittersRCV001155817 RCV003698845

NM_032119.4(ADGRV1):c.13897C>T (p.Gln4633Ter)

SNV
Germline

Chr5:90789705

Conflicting classifications of pathogenicity

Usher syndrome type 2C
ADGRV1-related disorder

Criteria Provided
Conflicting Classifications

CA360398378

rs_1338081758

2 SubmittersRCV001155818 RCV004548034

NM_032119.4(ADGRV1):c.14319A>G (p.Ile4773Met)

SNV
Germline

Chr5:90791148

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3341706

rs_201953675

5 SubmittersRCV001157524 RCV001366683 RCV004768878

NM_032119.4(ADGRV1):c.14320C>T (p.Leu4774Phe)

SNV
Germline

Chr5:90791149

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Febrile seizures, familial, 4
Usher syndrome type 2C
Condition: not provided
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3341707

rs_200685818

5 SubmittersRCV001157525 RCV002483902 RCV001316471 RCV003994221 RCV002557347

NM_032119.4(ADGRV1):c.15009C>T (p.Gly5003=)

SNV
Germline

Chr5:90810269

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3341859

rs_375195936

2 SubmittersRCV001152060 RCV002070844

NM_032119.4(ADGRV1):c.15497C>T (p.Thr5166Met)

SNV
Germline

Chr5:90810757

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3341931

rs_375860783

3 SubmittersRCV001153324 RCV001232767 RCV004032804

NM_032119.4(ADGRV1):c.15498G>A (p.Thr5166=)

SNV
Germline

Chr5:90810758

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3341932

rs_745385503

2 SubmittersRCV001153325 RCV002557303

NM_032119.4(ADGRV1):c.16308C>T (p.Thr5436=)

SNV
Germline

Chr5:90823536

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3342111

rs_137853917

2 SubmittersRCV001157634 RCV002070942

NM_032119.4(ADGRV1):c.16337G>C (p.Cys5446Ser)

SNV
Germline

Chr5:90823565

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA360425720

rs_1385789921

2 SubmittersRCV001157637 RCV002032460

NM_032119.4(ADGRV1):c.17033G>C (p.Gly5678Ala)

SNV
Germline

Chr5:90848650

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3342281

rs_754164679

3 SubmittersRCV001153443 RCV001562274

NM_032119.4(ADGRV1):c.17075A>G (p.Tyr5692Cys)

SNV
Germline

Chr5:90848692

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3342287

rs_746621216

5 SubmittersRCV001153444 RCV002558329 RCV001203379

NM_032119.4(ADGRV1):c.18516T>C (p.Asn6172=)

SNV
Germline

Chr5:91150113

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA445440380

rs_1458060011

3 SubmittersRCV001152269 RCV001172161

NM_032119.4(ADGRV1):c.18711G>A (p.Thr6237=)

SNV
Germline

Chr5:91153307

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3342726

rs_749201239

2 SubmittersRCV001153544 RCV003769736

NM_032119.4(ADGRV1):c.*17C>T

SNV
Germline

Chr5:91163917

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3342780

rs_767529084

2 SubmittersRCV001156166 RCV001558716

NM_032119.4(ADGRV1):c.*18G>C

SNV
Germline

Chr5:91163918

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3342781

rs_368671859

2 SubmittersRCV001156167 RCV001595066

NM_032119.4(ADGRV1):c.*259A>G

SNV
Germline

Chr5:91164159

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3342800

rs_147905321

2 SubmittersRCV001156172 RCV001615126

NM_032119.4(ADGRV1):c.3416+9A>G

SNV
Germline

Chr5:90651739

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA560900507

rs_1228297663

2 SubmittersRCV001154288 RCV003660860

NM_032119.4(ADGRV1):c.4378+11T>C

SNV
Germline

Chr5:90653963

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA561259591

rs_1225844494

2 SubmittersRCV001151338 RCV002557263

NM_032119.4(ADGRV1):c.8287-1G>C

SNV
Germline

Chr5:90704388

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA360389595

rs_1359811582

2 SubmittersRCV001154697 RCV001240555

NM_032119.4(ADGRV1):c.8386+12T>C

SNV
Germline

Chr5:90704500

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3340241

rs_780022610

2 SubmittersRCV001154699 RCV003769740

NM_032119.4(ADGRV1):c.9448-14G>A

SNV
Germline

Chr5:90720034

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3340511

rs_370196445

2 SubmittersRCV001157222 RCV001459405

NM_032119.4(ADGRV1):c.17455-6T>C

SNV
Germline

Chr5:90854056

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3342378

rs_773817946

2 SubmittersRCV001153449 RCV002070868

NM_032119.4(ADGRV1):c.17595-4C>T

SNV
Germline

Chr5:90855737

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3342401

rs_762535387

2 SubmittersRCV001156034 RCV001484453

NM_032119.4(ADGRV1):c.18153-13A>T

SNV
Germline

Chr5:91072434

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3342580

rs_750471995

2 SubmittersRCV001157755 RCV001429028

NM_032119.4(ADGRV1):c.18433-13T>C

SNV
Germline

Chr5:91150017

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA561261561

rs_1313679502

2 SubmittersRCV001157760 RCV002070944

NM_015404.4(WHRN):c.*51C>T

SNV
Germline

Chr9:114402703

Conflicting classifications of pathogenicity

Usher syndrome type 2D
Autosomal recessive nonsyndromic hearing loss 31
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5205538

rs_529176890

2 SubmittersRCV001253897 RCV001253896 RCV001587292

NM_015404.4(WHRN):c.2438C>T (p.Thr813Met)

SNV
Germline

Chr9:114403320

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 31
Usher syndrome type 2D
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5205624

rs_143728180

5 SubmittersRCV001167835 RCV001167834 RCV001424751

NM_015404.4(WHRN):c.1389G>T (p.Leu463=)

SNV
Germline

Chr9:114424361

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 31
Usher syndrome type 2D
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5205977

rs_748769354

2 SubmittersRCV001165875 RCV001165876 RCV002068009

NM_015404.4(WHRN):c.762C>T (p.His254=)

SNV
Germline

Chr9:114478628

Conflicting classifications of pathogenicity

Usher syndrome type 2D
Autosomal recessive nonsyndromic hearing loss 31
Condition: not provided
WHRN-related disorder

Criteria Provided
Conflicting Classifications

CA5206201

rs_201171374

3 SubmittersRCV001168892 RCV001168893 RCV001404462 RCV003953560

NM_015404.4(WHRN):c.684C>T (p.Tyr228=)

SNV
Germline

Chr9:114478706

Conflicting classifications of pathogenicity

Usher syndrome type 2D
Autosomal recessive nonsyndromic hearing loss 31
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5206217

rs_377363590

2 SubmittersRCV001166009 RCV001166008 RCV001489244

NM_015404.4(WHRN):c.324A>G (p.Gln108=)

SNV
Germline

Chr9:114504478

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 31
Usher syndrome type 2D
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5206316

rs_763014940

2 SubmittersRCV001167577 RCV001167576 RCV001295889

NM_015404.4(WHRN):c.-204C>G

SNV
Germline

Chr9:114505005

Conflicting classifications of pathogenicity

Usher syndrome type 2D
Autosomal recessive nonsyndromic hearing loss 31
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16372648

rs_145985595

2 SubmittersRCV001166062 RCV001166063 RCV001655691

NM_206933.4(USH2A):c.3841A>T (p.Arg1281Ter)

SNV
Germline

Chr1:216198555

Pathogenic

Usher syndrome type 2A

No Assertion Criteria Provided

CA344867352

rs_2034908088

1 SubmittersRCV001199962

NM_032119.4(ADGRV1):c.1626A>T (p.Thr542=)

SNV
Germline

Chr5:90629326

Pathogenic

Usher syndrome type 2A

No Assertion Criteria Provided

CA445466138

rs_1765197280

1 SubmittersRCV001199958

NM_206933.4(USH2A):c.4396+2T>G

SNV
Germline

Chr1:216190221

Pathogenic

Usher syndrome type 2A

No Assertion Criteria Provided

CA344865024

rs_2034687381

1 SubmittersRCV001199966

NM_174878.3(CLRN1):c.254-2A>G

SNV
Germline

Chr3:150941763

Likely pathogenic

Usher syndrome type 3
Retinitis pigmentosa 61

Criteria Provided
Single Submitter

CA354956260

rs_1713861377

2 SubmittersRCV001199960 RCV004570414

NM_153676.4(USH1C):c.121G>A (p.Val41Met)

SNV
Germline

Chr11:17531526

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Usher syndrome type 1C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5905159

rs_780439529

7 SubmittersRCV001195265 RCV001664744 RCV001833757 RCV002560194

NM_000260.4(MYO7A):c.2656G>A (p.Ala886Thr)

SNV
Germline

Chr11:77180443

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 1B
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6197888

rs_782726270

5 SubmittersRCV001195387 RCV001279407 RCV001419885 RCV002561035

NM_206933.4(USH2A):c.13339A>T (p.Met4447Leu)

SNV
Germline

Chr1:215674572

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA1393309

rs_139474806

3 SubmittersRCV001196595 RCV001268167

NM_002109.6(HARS1):c.1214G>A (p.Arg405Gln)

SNV
Germline

Chr5:140675114

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 3B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3443878

rs_147185134

3 SubmittersRCV005348364 RCV001219683 RCV002285459

NM_002109.6(HARS1):c.1201G>C (p.Glu401Gln)

SNV
Germline

Chr5:140675127

Conflicting classifications of pathogenicity

Usher syndrome type 3B
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3443880

rs_552434037

3 SubmittersRCV001217845 RCV003127693 RCV004034047

NM_022124.6(CDH23):c.4738C>T (p.Arg1580Cys)

SNV
Germline

Chr10:71741814

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA5545136

rs_555430482

3 SubmittersRCV001219763 RCV001833908

NM_000260.4(MYO7A):c.4398G>A (p.Trp1466Ter)

SNV
Germline

Chr11:77197555

Pathogenic

Condition: not provided
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2

Criteria Provided
Multiple Submitters
No Conflicts

CA381950088

rs_1956759935

2 SubmittersRCV001217557 RCV005225319

NM_206933.4(USH2A):c.3800C>T (p.Ala1267Val)

SNV
Germline

Chr1:216199638

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1395920

rs_768141777

4 SubmittersRCV001210162 RCV001828683 RCV003284049

NM_206933.4(USH2A):c.1618C>T (p.Gln540Ter)

SNV
Germline

Chr1:216321909

Pathogenic

Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344907664

rs_1558036860

3 SubmittersRCV001209939 RCV003462702 RCV005012611

NM_002109.6(HARS1):c.1462G>A (p.Asp488Asn)

SNV
Germline

Chr5:140674325

Conflicting classifications of pathogenicity

Usher syndrome type 3B
not specified

Criteria Provided
Conflicting Classifications

CA3443801

rs_771603866

2 SubmittersRCV001201568 RCV005348350

NM_032119.4(ADGRV1):c.6017G>A (p.Gly2006Asp)

SNV
Germline

Chr5:90683938

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2C

Criteria Provided
Conflicting Classifications

CA3339695

rs_768201036

2 SubmittersRCV001213052 RCV001334321

NM_032119.4(ADGRV1):c.8308T>C (p.Phe2770Leu)

SNV
Germline

Chr5:90704410

Conflicting classifications of pathogenicity

Condition: not provided
ADGRV1-related disorder
Usher syndrome type 2C
Usher syndrome type 2C
Febrile seizures, familial, 4

Criteria Provided
Conflicting Classifications

CA3340231

rs_375272281

6 SubmittersRCV001202223 RCV004548055 RCV004821300 RCV002484082

NM_022124.6(CDH23):c.6337C>T (p.Gln2113Ter)

SNV
Germline

Chr10:71793265

Pathogenic

Condition: not provided
Usher syndrome type 1
Pituitary adenoma 5, multiple types

Criteria Provided
Multiple Submitters
No Conflicts

CA5546058

rs_771210121

3 SubmittersRCV001203167 RCV001833785 RCV004570425

NM_206933.4(USH2A):c.8224-1G>C

SNV
Germline

Chr1:215879099

Pathogenic

Condition: not provided
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344832840

rs_1664846558

3 SubmittersRCV001213552 RCV003469357 RCV005012618

NM_022124.6(CDH23):c.336+1G>A

SNV
Germline

Chr10:71511002

Pathogenic

Condition: not provided
Usher syndrome type 1
Pituitary adenoma 5, multiple types

Criteria Provided
Multiple Submitters
No Conflicts

CA5543377

rs_764824311

3 SubmittersRCV001203166 RCV001828631 RCV003473739

NM_001384140.1(PCDH15):c.3122+1G>A

SNV
Germline

Chr10:53959731

Likely pathogenic

Condition: not provided
Usher syndrome type 1F
Autosomal recessive nonsyndromic hearing loss 23

Criteria Provided
Single Submitter

CA207208238

rs_982893820

3 SubmittersRCV001214300 RCV001836156 RCV003473762

NM_206933.4(USH2A):c.14926G>A (p.Gly4976Ser)

SNV
Germline

Chr1:215640600

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA1392884

rs_200761611

3 SubmittersRCV001235584 RCV001828874 RCV003469432

NM_206933.4(USH2A):c.13979C>A (p.Pro4660Gln)

SNV
Germline

Chr1:215671126

Pathogenic

Condition: not provided
Usher syndrome type 2A

Criteria Provided
Single Submitter

CA1393169

rs_761367363

2 SubmittersRCV001226998 RCV001833961

NM_206933.4(USH2A):c.13272C>A (p.Cys4424Ter)

SNV
Germline

Chr1:215674639

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA344845919

rs_1657939866

3 SubmittersRCV001231420 RCV003462787 RCV002307704

NM_206933.4(USH2A):c.11095G>T (p.Glu3699Ter)

SNV
Germline

Chr1:215759796

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344823135

rs_755804518

4 SubmittersRCV001235448 RCV002246225 RCV005012656

NM_206933.4(USH2A):c.8332C>T (p.Gln2778Ter)

SNV
Germline

Chr1:215878990

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344832026

rs_1664842535

2 SubmittersRCV001227118 RCV005014265

NM_206933.4(USH2A):c.2330G>A (p.Cys777Tyr)

SNV
Germline

Chr1:216247064

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA1396247

rs_192119790

3 SubmittersRCV001232520 RCV001249898 RCV001836188

NM_206933.4(USH2A):c.2149T>A (p.Cys717Ser)

SNV
Germline

Chr1:216250921

Pathogenic

Condition: not provided
Usher syndrome type 2A

Criteria Provided
Single Submitter

CA344866073

rs_1304016981

2 SubmittersRCV001226886 RCV001828813

NM_206933.4(USH2A):c.1236G>C (p.Trp412Cys)

SNV
Germline

Chr1:216324260

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A
not specified
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA1396567

rs_757525434

4 SubmittersRCV001227461 RCV001828816 RCV004587080 RCV005014266

NM_206933.4(USH2A):c.1226G>A (p.Trp409Ter)

SNV
Germline

Chr1:216324270

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome type 2A
Usher syndrome
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344911767

rs_2037682180

6 SubmittersRCV001237068 RCV003388606 RCV003389490 RCV003462803

NM_032119.4(ADGRV1):c.3431G>A (p.Arg1144Gln)

SNV
Germline

Chr5:90652360

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided
Febrile seizures, familial, 4
Usher syndrome type 2C

Criteria Provided
Conflicting Classifications

CA3339186

rs_199735068

4 SubmittersRCV003259176 RCV001227264 RCV002504299

NM_032119.4(ADGRV1):c.18710C>T (p.Thr6237Met)

SNV
Germline

Chr5:91153306

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2C
Febrile seizures, familial, 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA123051477

rs_376428763

3 SubmittersRCV001232287 RCV002491746 RCV002563220

NM_000260.4(MYO7A):c.462C>A (p.Cys154Ter)

SNV
Germline

Chr11:77156083

Pathogenic

Condition: not provided
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA381931698

rs_1952434877

2 SubmittersRCV001232281 RCV002480760

NM_000260.4(MYO7A):c.3718C>T (p.Arg1240Trp)

SNV
Germline

Chr11:77190107

Pathogenic/Likely pathogenic

Condition: not provided
Ear malformation
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA6198176

rs_371374104

4 SubmittersRCV001238581 RCV001814288 RCV005012665 RCV004690028

NM_000260.4(MYO7A):c.5146G>T (p.Glu1716Ter)

SNV
Germline

Chr11:77202402

Pathogenic

Condition: not provided
Usher syndrome type 1B
Usher syndrome
Usher syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA381951822

rs_1236207116

4 SubmittersRCV001227348 RCV001833964 RCV004800736 RCV005417359

NM_206933.4(USH2A):c.6929C>T (p.Thr2310Met)

SNV
Germline

Chr1:215970653

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA1394999

rs_151057466

8 SubmittersRCV001239617 RCV001376450 RCV001834098

NM_206933.4(USH2A):c.5266G>A (p.Val1756Ile)

SNV
Germline

Chr1:216083488

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A
USH2A-related disorder

Criteria Provided
Conflicting Classifications

CA1395495

rs_143208990

5 SubmittersRCV001248223 RCV004698351 RCV004733214

NM_206933.4(USH2A):c.4481A>T (p.Asn1494Ile)

SNV
Germline

Chr1:216175398

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A
not specified

Criteria Provided
Conflicting Classifications

CA344863800

rs_2034357761

3 SubmittersRCV001247786 RCV001835306 RCV005408779

NM_206933.4(USH2A):c.3406A>G (p.Ser1136Gly)

SNV
Germline

Chr1:216200032

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344868786

rs_2034947671

2 SubmittersRCV001245559 RCV005012676

NM_174878.3(CLRN1):c.606T>G (p.Asn202Lys)

SNV
Germline

Chr3:150928029

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Usher syndrome
Usher syndrome type 3A
Retinitis pigmentosa 61

Criteria Provided
Multiple Submitters
No Conflicts

CA2666006

rs_746128095

4 SubmittersRCV001246907 RCV003887969 RCV004690033 RCV005038009

NM_174878.3(CLRN1):c.434G>T (p.Gly145Val)

SNV
Germline

Chr3:150928201

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome

Criteria Provided
Conflicting Classifications

CA354953522

rs_765085056

2 SubmittersRCV001240802 RCV003389491

NM_001384140.1(PCDH15):c.3673A>G (p.Thr1225Ala)

SNV
Germline

Chr10:53866686

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1F
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5505596

rs_61731381

4 SubmittersRCV001240938 RCV001828963 RCV004034667

NM_001384140.1(PCDH15):c.3029A>G (p.Asp1010Gly)

SNV
Germline

Chr10:53959825

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1F

Criteria Provided
Conflicting Classifications

CA5505822

rs_776416750

2 SubmittersRCV001248284 RCV002570376

NM_001384140.1(PCDH15):c.1836C>A (p.Ser612Arg)

SNV
Germline

Chr10:54132956

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1F
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5506247

rs_200226791

4 SubmittersRCV001244549 RCV001835206 RCV004034792

NM_001384140.1(PCDH15):c.1517C>T (p.Thr506Met)

SNV
Germline

Chr10:54183517

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1F
Autosomal recessive nonsyndromic hearing loss 23
Usher syndrome type 1D
Usher syndrome type 1F
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5506351

rs_367937228

4 SubmittersRCV001239321 RCV001828916 RCV002484306 RCV003263878

NM_001384140.1(PCDH15):c.1075C>T (p.Gln359Ter)

SNV
Germline

Chr10:54213959

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive nonsyndromic hearing loss 23
Usher syndrome type 1F

Criteria Provided
Multiple Submitters
No Conflicts

CA376523469

rs_2051720336

3 SubmittersRCV001244263 RCV002290658 RCV005606788

NM_001384140.1(PCDH15):c.824G>A (p.Arg275His)

SNV
Germline

Chr10:54317323

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1F

Criteria Provided
Conflicting Classifications

CA5506588

rs_142678284

4 SubmittersRCV001243451 RCV001829031

NM_001384140.1(PCDH15):c.662A>G (p.Asn221Ser)

SNV
Germline

Chr10:54329639

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1F

Criteria Provided
Conflicting Classifications

CA5506631

rs_139547641

3 SubmittersRCV001247068 RCV001830002

NM_001384140.1(PCDH15):c.401G>A (p.Arg134Gln)

SNV
Germline

Chr10:54369193

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1F
Autosomal recessive nonsyndromic hearing loss 23

Criteria Provided
Conflicting Classifications

CA376542221

rs_767966376

6 SubmittersRCV001243483 RCV002568567 RCV003473823

NM_022124.6(CDH23):c.3707G>A (p.Arg1236Gln)

SNV
Germline

Chr10:71730596

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA5544808

rs_186990940

3 SubmittersRCV001241542 RCV001828979

NM_022124.6(CDH23):c.9335T>C (p.Ile3112Thr)

SNV
Germline

Chr10:71811970

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1
CDH23-related disorder

Criteria Provided
Conflicting Classifications

CA5546990

rs_201359237

4 SubmittersRCV001238930 RCV001828910 RCV004757388

NM_022124.6(CDH23):c.9430G>A (p.Ala3144Thr)

SNV
Germline

Chr10:71812529

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5547075

rs_779358121

3 SubmittersRCV001242575 RCV001828997 RCV005318687

NM_000260.4(MYO7A):c.970G>T (p.Ala324Ser)

SNV
Germline

Chr11:77158397

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA6197312

rs_376348438

3 SubmittersRCV001243239 RCV003988864

NM_000260.4(MYO7A):c.1979G>T (p.Gly660Val)

SNV
Germline

Chr11:77174799

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1B
not specified

Criteria Provided
Conflicting Classifications

CA381939209

rs_1555078946

4 SubmittersRCV001248504 RCV001835339 RCV005236729

NM_000260.4(MYO7A):c.4804C>T (p.Arg1602Trp)

SNV
Germline

Chr11:77199770

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6198545

rs_373048784

4 SubmittersRCV001245315 RCV001279804 RCV004034821

NM_000260.4(MYO7A):c.4951G>A (p.Gly1651Ser)

SNV
Germline

Chr11:77201546

Pathogenic

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome
Usher syndrome type 1B
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA381951300

rs_1201586094

5 SubmittersRCV001542594 RCV004800742 RCV001834092 RCV001239504

NM_206933.4(USH2A):c.7301-1G>A

SNV
Germline

Chr1:215900906

Pathogenic

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344850608

rs_1438496892

3 SubmittersRCV001226427 RCV001833957 RCV003462775

NM_206933.4(USH2A):c.1971+1G>T

SNV
Germline

Chr1:216289279

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344902125

rs_2036950570

2 SubmittersRCV001231118 RCV005014276

NM_000260.4(MYO7A):c.2905-1G>C

SNV
Germline

Chr11:77181950

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1B
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA381943753

rs_1171417339

3 SubmittersRCV001238259 RCV001834062 RCV001839034

NM_206933.4(USH2A):c.14344-1G>T

SNV
Germline

Chr1:215648767

Pathogenic

Condition: not provided
Usher syndrome type 2A

Criteria Provided
Single Submitter

CA37390554

rs_919142559

2 SubmittersRCV001246032 RCV001835257

NM_206933.4(USH2A):c.6485+5G>A

SNV
Germline

Chr1:216000398

Pathogenic

Condition: not provided
Retinitis pigmentosa 39
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA1139656562

rs_1668240410

3 SubmittersRCV001242662 RCV003462819 RCV005408776

NM_022124.6(CDH23):c.145+1G>T

SNV
Germline

Chr10:71446396

Likely pathogenic

Condition: not provided
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Pituitary adenoma 5, multiple types

Criteria Provided
Multiple Submitters
No Conflicts

CA377114957

rs_1850169561

2 SubmittersRCV001239155 RCV005040079

NM_206933.4(USH2A):c.1614C>A (p.Cys538Ter)

SNV
Unknown

Chr1:216321913

Pathogenic

Usher syndrome type 2A

Criteria Provided
Single Submitter

CA344907698

rs_1195403033

1 SubmittersRCV001250804

NM_206933.4(USH2A):c.842C>A (p.Thr281Lys)

SNV
Germline

Chr1:216327597

Pathogenic/Likely pathogenic

Autosomal recessive retinitis pigmentosa
Condition: not provided
Usher syndrome
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA344912812

rs_2037760415

6 SubmittersRCV001257908 RCV002570628 RCV003323835 RCV003449817 RCV003469488 RCV004814035

NM_206933.4(USH2A):c.5550T>A (p.Tyr1850Ter)

SNV
Unknown

Chr1:216078111

Likely pathogenic

Usher syndrome type 2A

Criteria Provided
Single Submitter

CA344855663

rs_763831329

1 SubmittersRCV001258347

NM_000260.4(MYO7A):c.32G>A (p.Trp11Ter)

SNV
Unknown

Chr11:77142722

Likely pathogenic

Usher syndrome type 1

Criteria Provided
Single Submitter

CA381947513

rs_1307924861

1 SubmittersRCV001264284

NM_000260.4(MYO7A):c.33G>A (p.Trp11Ter)

SNV
Unknown

Chr11:77142723

Likely pathogenic

Usher syndrome type 1

Criteria Provided
Single Submitter

CA381947520

rs_1555051419

1 SubmittersRCV001264285

NM_000260.4(MYO7A):c.103C>T (p.Gln35Ter)

SNV
Unknown

Chr11:77142793

Likely pathogenic

Usher syndrome type 1

Criteria Provided
Single Submitter

CA381926455

rs_1951307710

1 SubmittersRCV001264286

NM_000260.4(MYO7A):c.109C>T (p.Gln37Ter)

SNV
Germline

Chr11:77142799

Pathogenic/Likely pathogenic

Usher syndrome type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA381926505

rs_1951308166

2 SubmittersRCV001263712 RCV001880066

NM_000260.4(MYO7A):c.517C>T (p.Gln173Ter)

SNV
Germline

Chr11:77156706

Pathogenic/Likely pathogenic

Usher syndrome type 1
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1B
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA6197161

rs_782347270

6 SubmittersRCV001263713 RCV001880067 RCV004570654 RCV005606794 RCV004814040

NM_000260.4(MYO7A):c.712G>T (p.Glu238Ter)

SNV
Unknown

Chr11:77156981

Likely pathogenic

Usher syndrome type 1

Criteria Provided
Single Submitter

CA381932271

rs_1952532000

1 SubmittersRCV001263714

NM_000260.4(MYO7A):c.778G>T (p.Glu260Ter)

SNV
Unknown

Chr11:77157321

Likely pathogenic

Usher syndrome type 1

Criteria Provided
Single Submitter

CA381932438

rs_1555064033

1 SubmittersRCV001263715

NM_000260.4(MYO7A):c.842T>A (p.Leu281Ter)

SNV
Unknown

Chr11:77157385

Likely pathogenic

Usher syndrome type 1

Criteria Provided
Single Submitter

CA381932680

rs_1952585733

1 SubmittersRCV001263716

NM_000260.4(MYO7A):c.858C>A (p.Cys286Ter)

SNV
Unknown

Chr11:77158285

Likely pathogenic

Usher syndrome type 1

Criteria Provided
Single Submitter

CA381932813

rs_1952682554

1 SubmittersRCV001263717

NM_000260.4(MYO7A):c.956C>A (p.Ser319Ter)

SNV
Unknown

Chr11:77158383

Likely pathogenic

Usher syndrome type 1

Criteria Provided
Single Submitter

CA381933168

rs_782747153

1 SubmittersRCV001263718

NM_000260.4(MYO7A):c.1351C>T (p.Gln451Ter)

SNV
Unknown

Chr11:77162127

Likely pathogenic

Usher syndrome type 1

Criteria Provided
Single Submitter

CA381935206

rs_1953058015

1 SubmittersRCV001263799

NM_000260.4(MYO7A):c.1423G>T (p.Glu475Ter)

SNV
Unknown

Chr11:77162199

Likely pathogenic

Usher syndrome type 1

Criteria Provided
Single Submitter

CA381935375

rs_1953066164

1 SubmittersRCV001263800

NM_000260.4(MYO7A):c.1843A>T (p.Lys615Ter)

SNV
Unknown

Chr11:77172793

Likely pathogenic

Usher syndrome type 1

Criteria Provided
Single Submitter

CA381938353

rs_1954237712

1 SubmittersRCV001263801

NM_000260.4(MYO7A):c.1885C>T (p.Gln629Ter)

SNV
Germline

Chr11:77172835

Pathogenic/Likely pathogenic

Usher syndrome type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA381938506

rs_1954248090

2 SubmittersRCV001263802 RCV001880069

NM_000260.4(MYO7A):c.1905C>A (p.Cys635Ter)

SNV
Unknown

Chr11:77172855

Likely pathogenic

Usher syndrome type 1

Criteria Provided
Single Submitter

CA381938564

rs_1954250327

1 SubmittersRCV001263803

NM_000260.4(MYO7A):c.1974C>A (p.Tyr658Ter)

SNV
Unknown

Chr11:77174794

Likely pathogenic

Usher syndrome type 1

Criteria Provided
Single Submitter

CA381939191

rs_1954477050

1 SubmittersRCV001263804

NM_000260.4(MYO7A):c.2157G>A (p.Trp719Ter)

SNV
Germline

Chr11:77175434

Pathogenic/Likely pathogenic

Usher syndrome type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA381939722

rs_1461201353

2 SubmittersRCV001263805 RCV002541613

NM_000260.4(MYO7A):c.2392C>T (p.Gln798Ter)

SNV
Unknown

Chr11:77179759

Likely pathogenic

Usher syndrome type 1

Criteria Provided
Single Submitter

CA381941468

rs_1555082575

1 SubmittersRCV001263806

NM_000260.4(MYO7A):c.2455C>T (p.Gln819Ter)

SNV
Unknown

Chr11:77179822

Likely pathogenic

Usher syndrome type 1

Criteria Provided
Single Submitter

CA381941667

rs_1955017383

1 SubmittersRCV001264302

NM_000260.4(MYO7A):c.2472C>A (p.Cys824Ter)

SNV
Unknown

Chr11:77179839

Likely pathogenic

Usher syndrome type 1

Criteria Provided
Single Submitter

CA381941728

rs_1407246264

1 SubmittersRCV001264303

NM_000260.4(MYO7A):c.2782C>T (p.Gln928Ter)

SNV
Unknown

Chr11:77181467

Likely pathogenic

Usher syndrome type 1

Criteria Provided
Single Submitter

CA381942868

rs_1955177223

1 SubmittersRCV001264304

NM_000260.4(MYO7A):c.2819C>A (p.Ser940Ter)

SNV
Unknown

Chr11:77181504

Likely pathogenic

Usher syndrome type 1

Criteria Provided
Single Submitter

CA381943024

rs_1955180601

1 SubmittersRCV001264305

NM_000260.4(MYO7A):c.3084C>A (p.Tyr1028Ter)

SNV
Unknown

Chr11:77182130

Likely pathogenic

Usher syndrome type 1

Criteria Provided
Single Submitter

CA381944277

rs_1955281533

1 SubmittersRCV001264306

NM_000260.4(MYO7A):c.3271C>T (p.Gln1091Ter)

SNV
Unknown

Chr11:77182586

Likely pathogenic

Usher syndrome type 1

Criteria Provided
Single Submitter

CA381945121

rs_1955333327

1 SubmittersRCV001264307

NM_000260.4(MYO7A):c.3982C>T (p.Gln1328Ter)

SNV
Unknown

Chr11:77192108

Likely pathogenic

Usher syndrome type 1

Criteria Provided
Single Submitter

CA381948637

rs_1956130442

1 SubmittersRCV001264308

NM_000260.4(MYO7A):c.4126A>T (p.Lys1376Ter)

SNV
Unknown

Chr11:77192252

Likely pathogenic

Usher syndrome type 1

Criteria Provided
Single Submitter

CA381948993

rs_1956149175

1 SubmittersRCV001264309

NM_000260.4(MYO7A):c.4153G>T (p.Glu1385Ter)

SNV
Unknown

Chr11:77194354

Likely pathogenic

Usher syndrome type 1

Criteria Provided
Single Submitter

CA381949070

rs_1956480240

1 SubmittersRCV001263735

NM_000260.4(MYO7A):c.4219G>T (p.Glu1407Ter)

SNV
Unknown

Chr11:77194420

Likely pathogenic

Usher syndrome type 1

Criteria Provided
Single Submitter

CA381949215

rs_1956485578

1 SubmittersRCV001263736

NM_000260.4(MYO7A):c.4321A>T (p.Lys1441Ter)

SNV
Unknown

Chr11:77194522

Likely pathogenic

Usher syndrome type 1

Criteria Provided
Single Submitter

CA381949457

rs_1956496669

1 SubmittersRCV001263737

NM_000260.4(MYO7A):c.4423G>T (p.Glu1475Ter)

SNV
Unknown

Chr11:77197580

Likely pathogenic

Usher syndrome type 1

Criteria Provided
Single Submitter

CA381950147

rs_1956761177

1 SubmittersRCV001263738

NM_000260.4(MYO7A):c.4432A>T (p.Lys1478Ter)

SNV
Unknown

Chr11:77197589

Likely pathogenic

Usher syndrome type 1

Criteria Provided
Single Submitter

CA381950168

rs_1956761416

1 SubmittersRCV001263739

NM_000260.4(MYO7A):c.4507G>T (p.Glu1503Ter)

SNV
Unknown

Chr11:77198560

Likely pathogenic

Usher syndrome type 1

Criteria Provided
Single Submitter

CA381950335

rs_1956843097

1 SubmittersRCV001263740

NM_000260.4(MYO7A):c.4762G>T (p.Glu1588Ter)

SNV
Unknown

Chr11:77199728

Likely pathogenic

Usher syndrome type 1

Criteria Provided
Single Submitter

CA381950880

rs_1181067492

1 SubmittersRCV001263741

NM_000260.4(MYO7A):c.5209A>T (p.Lys1737Ter)

SNV
Unknown

Chr11:77203100

Likely pathogenic

Usher syndrome type 1

Criteria Provided
Single Submitter

CA381952101

rs_1591474980

1 SubmittersRCV001263742

NM_000260.4(MYO7A):c.5442T>A (p.Tyr1814Ter)

SNV
Unknown

Chr11:77204191

Likely pathogenic

Usher syndrome type 1

Criteria Provided
Single Submitter

CA381952734

rs_1407313220

1 SubmittersRCV001263821

NM_000260.4(MYO7A):c.5488G>T (p.Glu1830Ter)

SNV
Unknown

Chr11:77205469

Likely pathogenic

Usher syndrome type 1

Criteria Provided
Single Submitter

CA381952851

rs_768418736

1 SubmittersRCV001263822

NM_000260.4(MYO7A):c.5610C>A (p.Cys1870Ter)

SNV
Unknown

Chr11:77205591

Likely pathogenic

Usher syndrome type 1

Criteria Provided
Single Submitter

CA381953103

rs_1957393464

1 SubmittersRCV001263823

NM_000260.4(MYO7A):c.5655C>A (p.Tyr1885Ter)

SNV
Unknown

Chr11:77206115

Likely pathogenic

Usher syndrome type 1

Criteria Provided
Single Submitter

CA381953202

rs_1957431273

1 SubmittersRCV001263824

NM_000260.4(MYO7A):c.5701C>T (p.Gln1901Ter)

SNV
Unknown

Chr11:77206161

Likely pathogenic

Usher syndrome type 1

Criteria Provided
Single Submitter

CA381953300

rs_1406392019

1 SubmittersRCV001263825

NM_000260.4(MYO7A):c.5842A>T (p.Lys1948Ter)

SNV
Unknown

Chr11:77207388

Likely pathogenic

Usher syndrome type 1

Criteria Provided
Single Submitter

CA381954132

rs_1957520697

1 SubmittersRCV001263826

NM_000260.4(MYO7A):c.5967C>A (p.Tyr1989Ter)

SNV
Germline

Chr11:77208719

Pathogenic/Likely pathogenic

Usher syndrome type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA381934137

rs_1957642707

2 SubmittersRCV001263827 RCV001880070

NM_000260.4(MYO7A):c.6013A>T (p.Lys2005Ter)

SNV
Unknown

Chr11:77208765

Likely pathogenic

Usher syndrome type 1

Criteria Provided
Single Submitter

CA381934488

rs_186644871

1 SubmittersRCV001263828

NM_000260.4(MYO7A):c.6106C>T (p.Gln2036Ter)

SNV
Germline

Chr11:77211206

Pathogenic/Likely pathogenic

Usher syndrome type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA381935736

rs_1957842461

2 SubmittersRCV001263994 RCV002537664

NM_000260.4(MYO7A):c.6184G>T (p.Glu2062Ter)

SNV
Germline

Chr11:77211284

Pathogenic/Likely pathogenic

Usher syndrome type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA381936119

rs_530700420

2 SubmittersRCV001263995 RCV001387385

NM_000260.4(MYO7A):c.6231G>A (p.Trp2077Ter)

SNV
Unknown

Chr11:77211331

Likely pathogenic

Usher syndrome type 1

Criteria Provided
Single Submitter

CA381936351

rs_1957851234

1 SubmittersRCV001263996

NM_000260.4(MYO7A):c.6252C>A (p.Tyr2084Ter)

SNV
Germline

Chr11:77211835

Likely pathogenic

Usher syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA381936457

rs_1957904821

2 SubmittersRCV001263998

NM_000260.4(MYO7A):c.6252C>G (p.Tyr2084Ter)

SNV
Unknown

Chr11:77211835

Likely pathogenic

Usher syndrome type 1

Criteria Provided
Single Submitter

CA381936458

rs_1957904821

1 SubmittersRCV001263997

NM_206933.4(USH2A):c.1144-2A>T

SNV
Germline

Chr1:216324354

Pathogenic

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344912150

rs_2037686445

5 SubmittersRCV001268230 RCV003446677 RCV003446678 RCV001779148 RCV002491871

NM_032119.4(ADGRV1):c.4378G>A (p.Gly1460Ser)

SNV
Germline

Chr5:90653952

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2C

Criteria Provided
Conflicting Classifications

CA360402430

rs_1303930496

3 SubmittersRCV001268195 RCV005253780

NM_001384140.1(PCDH15):c.3225T>C (p.Asn1075=)

SNV
Germline

Chr10:53940873

Conflicting classifications of pathogenicity

Usher syndrome type 1F
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5505773

rs_746404657

3 SubmittersRCV001278208 RCV001427506

NM_022124.6(CDH23):c.160C>G (p.Gln54Glu)

SNV
Germline

Chr10:71510096

Conflicting classifications of pathogenicity

Usher syndrome type 1
Condition: not provided
CDH23-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5543316

rs_765455172

5 SubmittersRCV001279016 RCV001871552 RCV004757395 RCV005306376

NM_022124.6(CDH23):c.2163C>T (p.Ile721=)

SNV
Germline

Chr10:71690571

Conflicting classifications of pathogenicity

Usher syndrome type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5544106

rs_192326086

3 SubmittersRCV001280206 RCV001414500

NM_022124.6(CDH23):c.3330C>G (p.Ser1110Arg)

SNV
Germline

Chr10:71712774

Conflicting classifications of pathogenicity

Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Pituitary adenoma 5, multiple types
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5544552

rs_371962929

3 SubmittersRCV001277722 RCV002486027 RCV002537768

NM_022124.6(CDH23):c.3695A>G (p.Gln1232Arg)

SNV
Germline

Chr10:71730584

Conflicting classifications of pathogenicity

Usher syndrome type 1
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5544807

rs_776158881

3 SubmittersRCV001277726 RCV001880238 RCV003353270

NM_022124.6(CDH23):c.5056G>A (p.Asp1686Asn)

SNV
Germline

Chr10:71777890

Conflicting classifications of pathogenicity

Usher syndrome type 1
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5545618

rs_373836924

5 SubmittersRCV001278265 RCV002537789 RCV002542891

NM_022124.6(CDH23):c.8257G>T (p.Ala2753Ser)

SNV
Germline

Chr10:71807355

Conflicting classifications of pathogenicity

Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 12

No Assertion Criteria Provided

CA377131072

rs_397517356

2 SubmittersRCV001279070 RCV001823192

NM_022124.6(CDH23):c.8344G>A (p.Asp2782Asn)

SNV
Germline

Chr10:71807551

Conflicting classifications of pathogenicity

Usher syndrome type 1
Condition: not provided
Inborn genetic diseases
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Pituitary adenoma 5, multiple types

Criteria Provided
Conflicting Classifications

CA5546629

rs_202147495

5 SubmittersRCV001279072 RCV001577123 RCV004035482 RCV002493488

NM_000260.4(MYO7A):c.2371C>T (p.Arg791Cys)

SNV
Germline

Chr11:77179738

Conflicting classifications of pathogenicity

Usher syndrome type 1B
Condition: not provided
Nonsyndromic genetic hearing loss
Inborn genetic diseases
Autosomal dominant nonsyndromic hearing loss 11

Criteria Provided
Conflicting Classifications

CA6197830

rs_782165016

6 SubmittersRCV001279401 RCV001551981 RCV004789509 RCV003166607 RCV004584873

NM_000260.4(MYO7A):c.2468G>A (p.Arg823His)

SNV
Germline

Chr11:77179835

Conflicting classifications of pathogenicity

Usher syndrome type 1B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6197849

rs_533027065

3 SubmittersRCV001279404 RCV002537847

NM_000260.4(MYO7A):c.5087G>A (p.Arg1696Gln)

SNV
Germline

Chr11:77202343

Conflicting classifications of pathogenicity

Usher syndrome type 1B
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6198619

rs_368862510

4 SubmittersRCV001279809 RCV001303071 RCV002542934

NM_000260.4(MYO7A):c.5195G>A (p.Arg1732His)

SNV
Germline

Chr11:77203086

Conflicting classifications of pathogenicity

Usher syndrome type 1B
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6198649

rs_760544219

4 SubmittersRCV001277324 RCV001880222 RCV002537744

NM_174878.3(CLRN1):c.188A>C (p.Tyr63Ser)

SNV
Germline

Chr3:150972521

Pathogenic

Usher syndrome type 3A
Usher syndrome

Criteria Provided
Single Submitter

CA355011869

rs_1715589813

3 SubmittersRCV001280869 RCV002274178

NM_001267727.2(ARSG):c.338G>A (p.Gly113Asp)

SNV
Germline

Chr17:68343723

Pathogenic

Usher syndrome, type 4
Condition: not provided

Criteria Provided
Single Submitter

CA400738472

rs_1244718647

3 SubmittersRCV001281350 RCV003770432

NM_001384140.1(PCDH15):c.574C>T (p.Gln192Ter)

SNV
Germline

Chr10:54346385

Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 23
Usher syndrome type 1D

Criteria Provided
Single Submitter

CA376541624

rs_1943286459

2 SubmittersRCV001283795 RCV003992488

NM_022124.6(CDH23):c.2128A>G (p.Ile710Val)

SNV
Germline

Chr10:71690536

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5544099

rs_367750869

5 SubmittersRCV001812998 RCV001835364 RCV002542978

NM_022124.6(CDH23):c.7394G>A (p.Arg2465Gln)

SNV
Germline

Chr10:71800667

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA5546335

rs_199903227

7 SubmittersRCV001288561 RCV001835369

NM_206933.4(USH2A):c.15355C>T (p.Arg5119Trp)

SNV
Germline

Chr1:215628978

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1392697

rs_767137840

3 SubmittersRCV001304889 RCV001835473 RCV003888006

NM_206933.4(USH2A):c.13514A>G (p.Tyr4505Cys)

SNV
Germline

Chr1:215674397

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A
Usher syndrome type 2A
Retinitis pigmentosa 39
not specified
Retinitis pigmentosa 39
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA344844917

rs_1268140508

7 SubmittersRCV001305846 RCV001835485 RCV002486190 RCV004690069 RCV003462874 RCV004815312

NM_206933.4(USH2A):c.13390T>C (p.Trp4464Arg)

SNV
Germline

Chr1:215674521

Likely pathogenic

Condition: not provided
Usher syndrome type 2A

Criteria Provided
Single Submitter

CA344845427

rs_1403832675

2 SubmittersRCV001299674 RCV001835427

NM_206933.4(USH2A):c.11155C>T (p.Arg3719Cys)

SNV
Germline

Chr1:215759736

Likely pathogenic

Condition: not provided
Usher syndrome type 2A

Criteria Provided
Single Submitter

CA1393802

rs_758951363

2 SubmittersRCV001302831 RCV001836270

NM_206933.4(USH2A):c.6225G>T (p.Trp2075Cys)

SNV
Germline

Chr1:216046531

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided

Criteria Provided
Conflicting Classifications

CA344858999

rs_1553294134

4 SubmittersRCV004699283 RCV003469514 RCV005014351 RCV001295875

NM_033056.4(PCDH15):c.5179G>A (p.Glu1727Lys)

SNV
Germline

Chr10:53822547

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1F
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5505111

rs_775361471

3 SubmittersRCV001295725 RCV001830128 RCV003246840

NM_001384140.1(PCDH15):c.2868+5G>A

SNV
Germline

Chr10:53995644

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1F
Autosomal recessive nonsyndromic hearing loss 23
Usher syndrome type 1D
Usher syndrome type 1F

Criteria Provided
Conflicting Classifications

CA5505910

rs_757993503

4 SubmittersRCV001308843 RCV001835512 RCV002476424

NM_022124.6(CDH23):c.1270G>A (p.Val424Met)

SNV
Germline

Chr10:71645960

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Pituitary adenoma 5, multiple types
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA5543746

rs_2305207

3 SubmittersRCV001304057 RCV002486178 RCV001830203

NM_022124.6(CDH23):c.4249C>T (p.Arg1417Trp)

SNV
Germline

Chr10:71738537

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1
not specified
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Pituitary adenoma 5, multiple types

Criteria Provided
Conflicting Classifications

CA5544992

rs_756231829

4 SubmittersRCV001306987 RCV001835497 RCV003226458 RCV002486199

NM_001267727.2(ARSG):c.130G>A (p.Asp44Asn)

SNV
Germline

Chr17:68307623

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome, type 4

Criteria Provided
Conflicting Classifications

CA8728109

rs_199566950

3 SubmittersRCV001299296 RCV001375495

NM_206933.4(USH2A):c.15020C>T (p.Pro5007Leu)

SNV
Germline

Chr1:215639187

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A
not specified

Criteria Provided
Conflicting Classifications

CA344826429

rs_1237333884

3 SubmittersRCV001324974 RCV001830997 RCV003331115

NM_206933.4(USH2A):c.13465G>A (p.Gly4489Ser)

SNV
Germline

Chr1:215674446

Pathogenic

Condition: not provided
Usher syndrome
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344845118

rs_1293619630

5 SubmittersRCV001315188 RCV003235546 RCV003449895 RCV003473854 RCV004796602

NM_206933.4(USH2A):c.12992A>G (p.Tyr4331Cys)

SNV
Germline

Chr1:215674919

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome type 2A
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344847917

rs_1423233510

3 SubmittersRCV001324975 RCV001830366 RCV005014424

NM_206933.4(USH2A):c.7517A>G (p.Tyr2506Cys)

SNV
Germline

Chr1:215900152

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA37451270

rs_937606032

4 SubmittersRCV001316049 RCV003449902 RCV003449903

NM_206933.4(USH2A):c.1172G>T (p.Ser391Ile)

SNV
Germline

Chr1:216324324

Pathogenic

Condition: not provided
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA37898360

rs_949082769

3 SubmittersRCV001314424 RCV001830281

NM_032119.4(ADGRV1):c.2483T>C (p.Val828Ala)

SNV
Germline

Chr5:90642971

Conflicting classifications of pathogenicity

Condition: not provided
Febrile seizures, familial, 4
Usher syndrome type 2C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3338945

rs_757135353

4 SubmittersRCV001321843 RCV002486283 RCV004035044

NM_032119.4(ADGRV1):c.3934G>A (p.Val1312Met)

SNV
Germline

Chr5:90653508

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Usher syndrome type 2

Criteria Provided
Conflicting Classifications

CA3339261

rs_199552258

4 SubmittersRCV001318162 RCV003323854 RCV005361525

NM_032119.4(ADGRV1):c.13433+9A>G

SNV
Germline

Chr5:90783334

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2C

Criteria Provided
Conflicting Classifications

CA122809202

rs_186025461

2 SubmittersRCV001327249 RCV001330106

NM_032119.4(ADGRV1):c.16450G>A (p.Ala5484Thr)

SNV
Germline

Chr5:90829025

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2

Criteria Provided
Conflicting Classifications

CA122805719

rs_576727094

2 SubmittersRCV001322392 RCV005361530

NM_000260.4(MYO7A):c.3509A>G (p.Glu1170Gly)

SNV
Germline

Chr11:77189349

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1B
Usher syndrome type 1
not specified
MYO7A-related disorder

Criteria Provided
Conflicting Classifications

CA381946829

rs_1555090196

5 SubmittersRCV001325860 RCV001831011 RCV003155394 RCV004587122 RCV004528466

NM_000260.4(MYO7A):c.4130T>C (p.Phe1377Ser)

SNV
Germline

Chr11:77192256

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1B

Criteria Provided
Conflicting Classifications

CA6198326

rs_777168937

3 SubmittersRCV001318788 RCV001830321

NM_000260.4(MYO7A):c.5006T>C (p.Val1669Ala)

SNV
Germline

Chr11:77201601

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1B

Criteria Provided
Conflicting Classifications

CA6198589

rs_369056903

3 SubmittersRCV001325220 RCV001831000

NM_173477.5(USH1G):c.164+5G>A

SNV
Germline

Chr17:74922905

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome type 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA627592536

rs_1337840598

4 SubmittersRCV001323490 RCV002283541

NM_022124.6(CDH23):c.271C>T (p.Gln91Ter)

SNV
Germline

Chr10:71510207

Pathogenic

Childhood onset hearing loss
Condition: not provided
Usher syndrome type 1D

Criteria Provided
Multiple Submitters
No Conflicts

CA377114620

rs_1853882557

4 SubmittersRCV001328019 RCV001859248 RCV005253804

NM_206933.4(USH2A):c.14546G>A (p.Trp4849Ter)

SNV
Germline

Chr1:215648564

Pathogenic/Likely pathogenic

Retinitis pigmentosa 39
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344833241

rs_1656936749

5 SubmittersRCV003453872 RCV001972407 RCV005008300

NM_000260.4(MYO7A):c.6421A>G (p.Ile2141Val)

SNV
Germline

Chr11:77213018

Conflicting classifications of pathogenicity

Autosomal dominant nonsyndromic hearing loss 11
Condition: not provided
Usher syndrome type 1B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6199058

rs_761164010

4 SubmittersRCV001334340 RCV001373989 RCV001831038 RCV004960800

NM_206933.4(USH2A):c.14288G>A (p.Gly4763Glu)

SNV
Germline

Chr1:215650647

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344835140

rs_781195579

3 SubmittersRCV001352306 RCV001825980

NM_206933.4(USH2A):c.5298+5G>A

SNV
Germline

Chr1:216083451

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA528730404

rs_1176314553

4 SubmittersRCV001341472 RCV001830436

NM_206933.4(USH2A):c.838C>T (p.Leu280Phe)

SNV
Germline

Chr1:216327601

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344912819

rs_2037760521

4 SubmittersRCV001346115 RCV001553665 RCV003449970

NM_002109.6(HARS1):c.1484T>C (p.Val495Ala)

SNV
Germline

Chr5:140674303

Conflicting classifications of pathogenicity

Usher syndrome type 3B
not specified

Criteria Provided
Conflicting Classifications

CA3443799

rs_138377835

2 SubmittersRCV001343274 RCV005348453

NM_032119.4(ADGRV1):c.17518T>C (p.Tyr5840His)

SNV
Germline

Chr5:90854125

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2C
Febrile seizures, familial, 4

Criteria Provided
Conflicting Classifications

CA3342387

rs_757218098

4 SubmittersRCV001346840 RCV002493786

NM_022124.6(CDH23):c.7994T>C (p.Ile2665Thr)

SNV
Germline

Chr10:71805927

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA209474178

rs_375019257

4 SubmittersRCV001345732 RCV001831116 RCV005532962

NM_000260.4(MYO7A):c.6091C>T (p.Arg2031Trp)

SNV
Germline

Chr11:77211191

Conflicting classifications of pathogenicity

Usher syndrome type 1B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6198934

rs_369460086

3 SubmittersRCV001825897 RCV001343868

NM_206933.4(USH2A):c.3026C>A (p.Ala1009Asp)

SNV
Germline

Chr1:216217518

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1396099

rs_150729680

5 SubmittersRCV001358586 RCV003450006 RCV003450007 RCV004815449

NM_206933.4(USH2A):c.9439T>C (p.Trp3147Arg)

SNV
Germline

Chr1:215817128

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1394312

rs_139649540

3 SubmittersRCV001373266 RCV001826115 RCV004968151

NM_206933.4(USH2A):c.5299-10T>C

SNV
Germline

Chr1:216078372

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA1395475

rs_375279569

3 SubmittersRCV001363393 RCV001826025

NM_206933.4(USH2A):c.4251G>T (p.Gln1417His)

SNV
Germline

Chr1:216196553

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
not specified
Retinal dystrophy
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA344866062

rs_2102460239

6 SubmittersRCV001360099 RCV001587370 RCV001587371 RCV004699335 RCV004815453 RCV005005877

NM_206933.4(USH2A):c.4124C>T (p.Ser1375Leu)

SNV
Germline

Chr1:216196680

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA1395802

rs_751479180

6 SubmittersRCV001365783 RCV001376389 RCV005005887 RCV003155401

NM_032119.4(ADGRV1):c.1309C>T (p.Arg437Trp)

SNV
Germline

Chr5:90628632

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2C

Criteria Provided
Conflicting Classifications

CA3338667

rs_765063390

2 SubmittersRCV001364246 RCV002272459

NM_022124.6(CDH23):c.1291-1G>A

SNV
Germline

Chr10:71646458

Pathogenic

Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D

Criteria Provided
Multiple Submitters
No Conflicts

CA377127895

rs_2132596686

2 SubmittersRCV001726513 RCV002471100

NM_022124.6(CDH23):c.6555G>T (p.Glu2185Asp)

SNV
Germline

Chr10:71793483

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 12
Condition: not provided
Usher syndrome type 1D

Criteria Provided
Conflicting Classifications

CA377155305

rs_2132954257

3 SubmittersRCV001726514 RCV001871961 RCV002471101

NM_006383.4(CIB2):c.196C>T (p.Arg66Trp)

SNV
Germline

Chr15:78111167

Pathogenic/Likely pathogenic

Hearing impairment
Condition: not provided
Retinal dystrophy
Autosomal recessive nonsyndromic hearing loss 48
Usher syndrome type 1J

Criteria Provided
Multiple Submitters
No Conflicts

CA7680314

rs_780168150

4 SubmittersRCV001375146 RCV001871966 RCV004815495 RCV005005222

NM_001267727.2(ARSG):c.1270C>T (p.Arg424Cys)

SNV
Germline

Chr17:68401417

Pathogenic

Usher syndrome, type 4

No Assertion Criteria Provided

CA400748441

rs_751663413

1 SubmittersRCV001375496

NM_206933.4(USH2A):c.3828T>G (p.Tyr1276Ter)

SNV
Germline

Chr1:216198568

Pathogenic/Likely pathogenic

Retinitis pigmentosa 39
Condition: not provided
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344867382

rs_2034908815

4 SubmittersRCV001376244 RCV001865891 RCV005606814

NM_032119.4(ADGRV1):c.14972+1G>T

SNV
Germline

Chr5:90807738

Likely pathogenic

Usher syndrome type 2C
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3341846

rs_780011571

3 SubmittersRCV001376190 RCV002550229

NM_206933.4(USH2A):c.11390-1G>A

SNV
Germline

Chr1:215743336

Pathogenic

Condition: not provided
Usher syndrome

Criteria Provided
Single Submitter

CA344835770

rs_2102727580

2 SubmittersRCV001378142 RCV002274193

NM_206933.4(USH2A):c.9739+1G>C

SNV
Germline

Chr1:215813735

Likely pathogenic

Condition: not provided
Usher syndrome type 2A

Criteria Provided
Single Submitter

CA344821233

rs_2102792994

2 SubmittersRCV001379985 RCV001831375

NM_206933.4(USH2A):c.7300+1G>C

SNV
Germline

Chr1:215934615

Likely pathogenic

Condition: not provided
Usher syndrome
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344857088

rs_1343780391

4 SubmittersRCV001377091 RCV002222707 RCV003446733 RCV003462944

NM_206933.4(USH2A):c.6163+1G>A

SNV
Germline

Chr1:216048533

Likely pathogenic

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344859382

rs_2030617696

4 SubmittersRCV001377391 RCV001826127 RCV003469625 RCV005005903

NM_206933.4(USH2A):c.2809+1G>C

SNV
Germline

Chr1:216246584

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344863988

rs_759433119

3 SubmittersRCV001377902 RCV001831348 RCV003462953

NM_206933.4(USH2A):c.849-2A>G

SNV
Germline

Chr1:216325601

Likely pathogenic

Condition: not provided
Usher syndrome type 2A

Criteria Provided
Single Submitter

CA344912788

rs_2102656326

2 SubmittersRCV001378991 RCV001831362

NM_206933.4(USH2A):c.848+2T>C

SNV
Germline

Chr1:216327589

Likely pathogenic

Condition: not provided
Usher syndrome type 2A

Criteria Provided
Single Submitter

CA344912794

rs_2102658759

2 SubmittersRCV001379578 RCV001831370

NM_032119.4(ADGRV1):c.1239-1G>T

SNV
Germline

Chr5:90628561

Pathogenic/Likely pathogenic

Condition: not provided
Febrile seizures, familial, 4
Usher syndrome type 2C

Criteria Provided
Multiple Submitters
No Conflicts

CA3338652

rs_373015808

2 SubmittersRCV001378988 RCV005038168

NM_032119.4(ADGRV1):c.9042G>C (p.Met3014Ile)

SNV
Germline

Chr5:90711322

Likely pathogenic

Condition: not provided
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA3340421

rs_763733110

2 SubmittersRCV001378418 RCV005419108

NM_032119.4(ADGRV1):c.10974+1G>A

SNV
Germline

Chr5:90745796

Likely pathogenic

Condition: not provided
Usher syndrome type 2C

Criteria Provided
Multiple Submitters
No Conflicts

CA360409799

rs_1754560628

2 SubmittersRCV001376988 RCV002272463

NM_001384140.1(PCDH15):c.3501+2T>C

SNV
Germline

Chr10:53903241

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome type 1F

Criteria Provided
Multiple Submitters
No Conflicts

CA5505654

rs_757418440

2 SubmittersRCV001376752 RCV002550241

NM_001384140.1(PCDH15):c.1440+2T>C

SNV
Germline

Chr10:54185132

Likely pathogenic

Condition: not provided
Usher syndrome type 1F

Criteria Provided
Multiple Submitters
No Conflicts

CA376514926

rs_1363688830

2 SubmittersRCV001377586 RCV002550243

NM_022124.6(CDH23):c.1752+1G>A

SNV
Germline

Chr10:71677694

Likely pathogenic

Condition: not provided
Pituitary adenoma 5, multiple types
Usher syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA377130751

rs_1347367555

3 SubmittersRCV001379125 RCV003473916 RCV005606817

NM_022124.6(CDH23):c.4206+1G>A

SNV
Germline

Chr10:71734342

Likely pathogenic

Condition: not provided
Usher syndrome type 1
Pituitary adenoma 5, multiple types

Criteria Provided
Multiple Submitters
No Conflicts

CA377158594

rs_1204500829

3 SubmittersRCV001379081 RCV001826148 RCV003473915

NM_022124.6(CDH23):c.6050-1G>C

SNV
Germline

Chr10:71791131

Pathogenic

Condition: not provided
Usher syndrome type 1

Criteria Provided
Single Submitter

CA5545987

rs_762805265

2 SubmittersRCV001377827 RCV005606815

NM_022124.6(CDH23):c.8064+1G>A

SNV
Germline

Chr10:71805998

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome type 1
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA377162266

rs_1474524543

3 SubmittersRCV001378340 RCV001826138 RCV002509678

NM_206933.4(USH2A):c.15208G>T (p.Glu5070Ter)

SNV
Germline

Chr1:215634548

Pathogenic

Usher syndrome type 2A
Condition: not provided

Criteria Provided
Single Submitter

CA344823714

rs_1426135314

2 SubmittersRCV001831392 RCV001385869

NM_206933.4(USH2A):c.11235C>A (p.Tyr3745Ter)

SNV
Germline

Chr1:215758749

Pathogenic

Condition: not provided
Usher syndrome type 2
Retinal dystrophy
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344821353

rs_768062696

4 SubmittersRCV001381446 RCV001692374 RCV004815512 RCV003450054

NM_206933.4(USH2A):c.6131C>A (p.Ser2044Ter)

SNV
Germline

Chr1:216048566

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344859450

rs_1209837469

4 SubmittersRCV001388190 RCV002499807 RCV003450079 RCV003450078

NM_206933.4(USH2A):c.5737G>T (p.Glu1913Ter)

SNV
Germline

Chr1:216073136

Pathogenic

Condition: not provided
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344854111

rs_762837293

3 SubmittersRCV001383977 RCV002246368

NM_206933.4(USH2A):c.1841-1G>A

SNV
Germline

Chr1:216289411

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344902972

rs_2102606531

3 SubmittersRCV001387464 RCV005014539 RCV003469733

NM_032119.4(ADGRV1):c.14404C>T (p.Arg4802Ter)

SNV
Germline

Chr5:90791233

Pathogenic

Condition: not provided
Febrile seizures, familial, 4
Usher syndrome type 2C
ADGRV1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA360401792

rs_1236715896

3 SubmittersRCV001389291 RCV005038208 RCV004550101

NM_001384140.1(PCDH15):c.4102G>T (p.Glu1368Ter)

SNV
Germline

Chr10:53831415

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive nonsyndromic hearing loss 23
Usher syndrome type 1F

Criteria Provided
Multiple Submitters
No Conflicts

CA5505468

rs_779165268

3 SubmittersRCV001390835 RCV003474000 RCV002551578

NM_001384140.1(PCDH15):c.3717+1G>T

SNV
Germline

Chr10:53866641

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome type 1F
Autosomal recessive nonsyndromic hearing loss 23
Usher syndrome type 1D

Criteria Provided
Multiple Submitters
No Conflicts

CA5505586

rs_748706627

5 SubmittersRCV001386495 RCV002551549 RCV003473966 RCV001810507

NM_022124.6(CDH23):c.65G>A (p.Trp22Ter)

SNV
Germline

Chr10:71439896

Pathogenic

Condition: not provided
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA377112631

rs_1431027601

2 SubmittersRCV001384287 RCV005237773

NM_022124.6(CDH23):c.8383C>T (p.Arg2795Ter)

SNV
Germline

Chr10:71807590

Pathogenic

Condition: not provided
Usher syndrome type 1D
Pituitary adenoma 5, multiple types
Autosomal recessive nonsyndromic hearing loss 12

Criteria Provided
Multiple Submitters
No Conflicts

CA5546639

rs_768834772

2 SubmittersRCV001380621 RCV005040244

NM_022124.6(CDH23):c.8432G>A (p.Trp2811Ter)

SNV
Germline

Chr10:71807639

Pathogenic

Condition: not provided
Pituitary adenoma 5, multiple types
Usher syndrome type 1D

Criteria Provided
Multiple Submitters
No Conflicts

CA377131534

rs_1841773052

4 SubmittersRCV001384470 RCV003473952 RCV003448917

NM_000260.4(MYO7A):c.1003+1G>A

SNV
Germline

Chr11:77158431

Pathogenic

Condition: not provided
Usher syndrome type 1B

Criteria Provided
Single Submitter

CA381933328

rs_1952694662

2 SubmittersRCV001387798 RCV001831399

NM_000260.4(MYO7A):c.5300C>A (p.Ser1767Ter)

SNV
Germline

Chr11:77203191

Pathogenic

Condition: not provided
Usher syndrome type 1B

Criteria Provided
Single Submitter

CA381952422

rs_757896867

2 SubmittersRCV001382582 RCV005606822

NM_000260.4(MYO7A):c.5428A>T (p.Lys1810Ter)

SNV
Germline

Chr11:77204177

Pathogenic

Condition: not provided
Usher syndrome type 1B
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA381952702

rs_778009227

6 SubmittersRCV001383416 RCV001826164 RCV004596451 RCV005005916 RCV004815517

NM_000260.4(MYO7A):c.6126C>G (p.Tyr2042Ter)

SNV
Germline

Chr11:77211226

Pathogenic

Condition: not provided
Autosomal recessive nonsyndromic hearing loss 2
Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA381935843

rs_1957844295

3 SubmittersRCV001389906 RCV001823206 RCV005005243

NM_173477.5(USH1G):c.742C>T (p.Gln248Ter)

SNV
Germline

Chr17:74920094

Pathogenic

Condition: not provided
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA8754009

rs_773231689

2 SubmittersRCV001388108 RCV004699133

NM_002109.6(HARS1):c.1445C>G (p.Thr482Arg)

SNV
Germline

Chr5:140674692

Conflicting classifications of pathogenicity

Usher syndrome type 3B
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3443820

rs_147372931

3 SubmittersRCV001410357 RCV001773744 RCV004038062

NM_002109.6(HARS1):c.653A>G (p.Asp218Gly)

SNV
Germline

Chr5:140677731

Conflicting classifications of pathogenicity

Usher syndrome type 3B
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3444027

rs_374172904

3 SubmittersRCV001419746 RCV002225837 RCV004917709

NM_001384140.1(PCDH15):c.3297C>T (p.Thr1099=)

SNV
Germline

Chr10:53938891

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1D

Criteria Provided
Conflicting Classifications

CA5505750

rs_749666237

2 SubmittersRCV001394187 RCV003988869

NM_022124.6(CDH23):c.8071T>C (p.Leu2691=)

SNV
Germline

Chr10:71806174

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12

Criteria Provided
Conflicting Classifications

CA5546543

rs_767480784

2 SubmittersRCV001403401 RCV001559189 RCV001559188

NM_002109.6(HARS1):c.615C>T (p.Gly205=)

SNV
Germline

Chr5:140677923

Conflicting classifications of pathogenicity

Usher syndrome type 3B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3444058

rs_371470801

2 SubmittersRCV001439913 RCV001581131

NM_153676.4(USH1C):c.204G>T (p.Leu68=)

SNV
Germline

Chr11:17531443

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 18A
Usher syndrome type 1C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5905140

rs_140945339

2 SubmittersRCV001578831 RCV001578832 RCV001448168

NM_000260.4(MYO7A):c.4734C>T (p.Asp1578=)

SNV
Germline

Chr11:77199700

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA6198532

rs_747155741

2 SubmittersRCV001435516 RCV001578726 RCV001578725 RCV001578727

NM_032119.4(ADGRV1):c.2285G>A (p.Arg762His)

SNV
Germline

Chr5:90642680

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 2C
Febrile seizures, familial, 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3338881

rs_757860505

4 SubmittersRCV001449819 RCV002488257 RCV001865917

NM_033056.4(PCDH15):c.5655C>T (p.His1885=)

SNV
Germline

Chr10:53822071

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive nonsyndromic hearing loss 23
Usher syndrome type 1F

Criteria Provided
Conflicting Classifications

CA5504989

rs_758953502

2 SubmittersRCV001469897 RCV001578643 RCV001578644

NM_022124.6(CDH23):c.9199-4G>A

SNV
Germline

Chr10:71811507

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Usher syndrome type 1D
Pituitary adenoma 5, multiple types
Autosomal recessive nonsyndromic hearing loss 12

Criteria Provided
Conflicting Classifications

CA5546932

rs_369900526

4 SubmittersRCV001460496 RCV003323885 RCV005040289

NM_022124.6(CDH23):c.2100C>T (p.Arg700=)

SNV
Germline

Chr10:71690508

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D

Criteria Provided
Conflicting Classifications

CA470059919

rs_2132705726

2 SubmittersRCV001481187 RCV001559182 RCV001559183

NM_000260.4(MYO7A):c.3633C>T (p.Tyr1211=)

SNV
Germline

Chr11:77190022

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11

Criteria Provided
Conflicting Classifications

CA6198151

rs_762101560

2 SubmittersRCV001486886 RCV001578770 RCV001578771 RCV001578769

NM_000260.4(MYO7A):c.767A>G (p.Tyr256Cys)

SNV
Germline

Chr11:77157310

Likely pathogenic

Usher syndrome type 1

Criteria Provided
Single Submitter

CA381932411

rs_2135244325

1 SubmittersRCV001526726

NM_000260.4(MYO7A):c.6071G>C (p.Arg2024Pro)

SNV
Germline

Chr11:77211171

Likely pathogenic

Usher syndrome type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA381935528

rs_770778096

2 SubmittersRCV001526727 RCV001873715

NM_022124.6(CDH23):c.4562A>G (p.Asn1521Ser)

SNV
Germline

Chr10:71740895

Pathogenic/Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 12
Ear malformation
Condition: not provided
Pituitary adenoma 5, multiple types
Usher syndrome type 1D
Pituitary adenoma 5, multiple types
Autosomal recessive nonsyndromic hearing loss 12

Criteria Provided
Multiple Submitters
No Conflicts

CA5545092

rs_780987516

8 SubmittersRCV001810087 RCV001814341 RCV002568238 RCV003474004 RCV004796638

NM_206933.4(USH2A):c.13655G>A (p.Trp4552Ter)

SNV
Germline

Chr1:215674256

Pathogenic

Usher syndrome type 2A

No Assertion Criteria Provided

CA344844052

rs_2102664776

1 SubmittersRCV001542723

NM_206933.4(USH2A):c.163C>T (p.Gln55Ter)

SNV
Germline

Chr1:216422174

Pathogenic

Usher syndrome type 2A

No Assertion Criteria Provided

CA344904733

rs_2102788946

1 SubmittersRCV001542517

NM_206933.4(USH2A):c.14969-2A>G

SNV
Germline

Chr1:215639240

Likely pathogenic

Usher syndrome
Usher syndrome type 2A

Criteria Provided
Single Submitter

CA344826852

rs_2102634730

2 SubmittersRCV002241370 RCV001822896

NM_032119.4(ADGRV1):c.4752+2T>G

SNV
Germline

Chr5:90658280

Likely pathogenic

Usher syndrome type 2C

No Assertion Criteria Provided

CA360405348

rs_774386059

1 SubmittersRCV001822892

NM_000260.4(MYO7A):c.1679A>G (p.Tyr560Cys)

SNV
Germline

Chr11:77162977

Pathogenic/Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA381936371

rs_2135312491

5 SubmittersRCV001822952 RCV002290719 RCV003389493

NM_000260.4(MYO7A):c.4138T>C (p.Tyr1380His)

SNV
Germline

Chr11:77192264

Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome

Criteria Provided
Single Submitter

CA381949021

rs_2135577456

2 SubmittersRCV001822967 RCV003389494

NM_000260.4(MYO7A):c.4972C>T (p.Gln1658Ter)

SNV
Germline

Chr11:77201567

Pathogenic/Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 2
Condition: not provided
Usher syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA381951352

rs_1401619267

3 SubmittersRCV001822906 RCV001882614 RCV002307752

NM_032119.4(ADGRV1):c.12829C>T (p.Arg4277Ter)

SNV
Germline

Chr5:90778589

Pathogenic

Usher syndrome type 2C
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA360388605

rs_1758506826

3 SubmittersRCV001544531 RCV003660895

NM_174878.3(CLRN1):c.697T>C (p.Ter233Arg)

SNV
Germline

Chr3:150927938

Likely pathogenic

Usher syndrome type 3A

No Assertion Criteria Provided

CA354952760

rs_2107927490

1 SubmittersRCV001823290

NM_022124.6(CDH23):c.2587+35C>T

SNV
Germline

Chr10:71702246

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome

Criteria Provided
Conflicting Classifications

CA5544268

rs_186492861

2 SubmittersRCV001555333 RCV003389495

NM_000260.4(MYO7A):c.5647C>T (p.Arg1883Trp)

SNV
Germline

Chr11:77206107

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome type 1B
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA224854331

rs_866352637

4 SubmittersRCV001557052 RCV001827468 RCV005057508

NM_000260.4(MYO7A):c.1118G>T (p.Arg373Leu)

SNV
Germline

Chr11:77160200

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1B
Autosomal recessive nonsyndromic hearing loss 2

Criteria Provided
Conflicting Classifications

CA381934371

rs_201491278

3 SubmittersRCV001560018 RCV001827475 RCV005052835

NM_206933.4(USH2A):c.7924A>G (p.Ile2642Val)

SNV
Germline

Chr1:215888725

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A
not specified

Criteria Provided
Conflicting Classifications

CA1394715

rs_143523460

4 SubmittersRCV001569077 RCV001836452 RCV003388028

NM_032119.4(ADGRV1):c.9623+1G>A

SNV
Germline

Chr5:90720224

Likely pathogenic

Condition: not provided
Febrile seizures, familial, 4
Usher syndrome type 2C

Criteria Provided
Multiple Submitters
No Conflicts

CA3340543

rs_749982150

3 SubmittersRCV001575207 RCV005038267

NM_000260.4(MYO7A):c.843G>A (p.Leu281=)

SNV
Germline

Chr11:77157386

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA475792764

rs_1555064274

2 SubmittersRCV001578779 RCV001578780 RCV001578778 RCV002570816

NM_000260.4(MYO7A):c.1669A>G (p.Ile557Val)

SNV
Germline

Chr11:77162967

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11

Criteria Provided
Conflicting Classifications

CA381936338

rs_1282033456

2 SubmittersRCV001578636 RCV001578637 RCV001578635

NM_000260.4(MYO7A):c.3825C>T (p.Asp1275=)

SNV
Germline

Chr11:77190771

Conflicting classifications of pathogenicity

Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6198211

rs_771896529

2 SubmittersRCV001578629 RCV001578630 RCV001578631 RCV002072278

NM_153676.4(USH1C):c.2269C>T (p.Arg757Cys)

SNV
Germline

Chr11:17501493

Conflicting classifications of pathogenicity

Usher syndrome type 1C
Autosomal recessive nonsyndromic hearing loss 18A
Condition: not provided
Usher syndrome

Criteria Provided
Conflicting Classifications

CA5904255

rs_757163581

3 SubmittersRCV001578834 RCV001578833 RCV002569100 RCV003389496

NM_206933.4(USH2A):c.4384A>C (p.Thr1462Pro)

SNV
Germline

Chr1:216190235

Conflicting classifications of pathogenicity

Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1395740

rs_757315203

3 SubmittersRCV001591879 RCV001591878 RCV003314694

NM_206933.4(USH2A):c.7454T>A (p.Leu2485Ter)

SNV
Germline

Chr1:215900215

Pathogenic

Usher syndrome type 2A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA344848971

rs_2102469649

3 SubmittersRCV001591885 RCV002573307

NM_022124.6(CDH23):c.3820G>A (p.Glu1274Lys)

SNV
Germline

Chr10:71732091

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1
Hearing loss, autosomal recessive

Criteria Provided
Conflicting Classifications

CA5544852

rs_775540526

4 SubmittersRCV001593418 RCV001827524 RCV004719045

NM_000260.4(MYO7A):c.2487G>A (p.Val829=)

SNV
Germline

Chr11:77179854

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1B

Criteria Provided
Conflicting Classifications

CA475794997

rs_1452906057

3 SubmittersRCV001586816 RCV001827526

NM_173477.5(USH1G):c.191G>A (p.Trp64Ter)

SNV
Germline

Chr17:74920645

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome type 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA293985048

rs_928656346

2 SubmittersRCV001658888 RCV002495984

NM_206933.4(USH2A):c.9739+2T>C

SNV
Germline

Chr1:215813734

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome type 2A

No Assertion Criteria Provided

CA344821228

rs_2102792992

3 SubmittersRCV001700830 RCV005606961

NM_206933.4(USH2A):c.1606T>A (p.Cys536Ser)

SNV
Germline

Chr1:216321921

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided
Usher syndrome
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344907733

rs_111033273

4 SubmittersRCV001724840 RCV002543875 RCV004526858 RCV005005994

NM_206933.4(USH2A):c.2810-1G>A

SNV
Germline

Chr1:216232137

Likely pathogenic

Retinitis pigmentosa
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1396145

rs_778336512

2 SubmittersRCV001724842 RCV005014619

NM_000260.4(MYO7A):c.3289C>T (p.Gln1097Ter)

SNV
Germline

Chr11:77183071

Pathogenic

Condition: not provided
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11

Criteria Provided
Multiple Submitters
No Conflicts

CA224842156

rs_548381313

5 SubmittersRCV001723297 RCV005005996

NM_032119.4(ADGRV1):c.14315C>A (p.Ser4772Ter)

SNV
Germline

Chr5:90791144

Likely pathogenic

Usher syndrome type 2C

Criteria Provided
Single Submitter

CA360401450

rs_1561740143

1 SubmittersRCV001728012

NM_206933.4(USH2A):c.4280T>C (p.Leu1427Pro)

SNV
Germline

Chr1:216190339

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA1395755

rs_373130157

3 SubmittersRCV001757935 RCV003451875 RCV003451876

NM_032119.4(ADGRV1):c.7130G>A (p.Arg2377Gln)

SNV
Germline

Chr5:90692783

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome
not specified

Criteria Provided
Conflicting Classifications

CA360372133

rs_369341309

3 SubmittersRCV001885143 RCV002274207 RCV001779545

NM_000260.4(MYO7A):c.2569C>T (p.Gln857Ter)

SNV
Germline

Chr11:77179936

Pathogenic/Likely pathogenic

Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA381942039

rs_1555082994

2 SubmittersRCV005006044 RCV001784703

NM_001195263.2(PDZD7):c.1543C>T (p.Gln515Ter)

SNV
Germline

Chr10:101016407

Pathogenic/Likely pathogenic

Usher syndrome type 2C
Hearing loss, autosomal recessive 57
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA212982286

rs_979094623

2 SubmittersRCV003147675 RCV003333179 RCV001782592

NM_001384140.1(PCDH15):c.876+1G>C

SNV
Germline

Chr10:54317270

Likely pathogenic

Usher syndrome type 1F

Criteria Provided
Single Submitter

CA376540756

rs_2133646979

1 SubmittersRCV001787319

NM_206933.4(USH2A):c.199T>G (p.Cys67Gly)

SNV
Germline

Chr1:216422138

Likely pathogenic

Usher syndrome type 2A

Criteria Provided
Single Submitter

CA344904584

rs_2102788868

1 SubmittersRCV001787431

NM_032119.4(ADGRV1):c.7030G>T (p.Ala2344Ser)

SNV
Germline

Chr5:90692683

Conflicting classifications of pathogenicity

Usher syndrome type 2C
Febrile seizures, familial, 4
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3339952

rs_373807911

4 SubmittersRCV002489843 RCV001797546 RCV004616780

NM_206933.4(USH2A):c.8618T>G (p.Leu2873Ter)

SNV
Germline

Chr1:215877821

Pathogenic

Usher syndrome type 2A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA344829450

rs_2102450764

4 SubmittersRCV001806687 RCV001869488

NM_174878.3(CLRN1):c.190G>A (p.Gly64Arg)

SNV
Germline

Chr3:150972519

Pathogenic/Likely pathogenic

Usher syndrome
Condition: not provided
Retinitis pigmentosa 61
Usher syndrome type 3A
Retinitis pigmentosa 61

Criteria Provided
Multiple Submitters
No Conflicts

CA355011864

rs_1380661508

4 SubmittersRCV001806792 RCV002541387 RCV003470922 RCV005038333

NM_000260.4(MYO7A):c.2683C>T (p.Arg895Cys)

SNV
Germline

Chr11:77180470

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA6197896

rs_781916427

4 SubmittersRCV001807902 RCV001807903 RCV001885285 RCV003235600

NM_032119.4(ADGRV1):c.4271G>A (p.Trp1424Ter)

SNV
Germline

Chr5:90653845

Likely pathogenic

Usher syndrome type 2C

Criteria Provided
Single Submitter

CA360402121

rs_2149468550

1 SubmittersRCV001807945

NM_000260.4(MYO7A):c.4852+2T>C

SNV
Germline

Chr11:77199820

Likely pathogenic

Usher syndrome type 1

Criteria Provided
Single Submitter

CA381951073

rs_2135682219

1 SubmittersRCV001808115

NM_206933.4(USH2A):c.10585+1G>A

SNV
Germline

Chr1:215782737

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA344837217

rs_2102763351

3 SubmittersRCV001808228 RCV002541469

NM_000260.4(MYO7A):c.2557C>T (p.Arg853Cys)

SNV
Germline

Chr11:77179924

Pathogenic/Likely pathogenic

Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA381942010

rs_2135473615

6 SubmittersRCV001808253 RCV005006069 RCV002541470

NM_022124.6(CDH23):c.3211G>A (p.Glu1071Lys)

SNV
Germline

Chr10:71709202

Pathogenic/Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA377143425

rs_2132751512

2 SubmittersRCV001809327 RCV004690139

NM_173477.5(USH1G):c.502G>T (p.Glu168Ter)

SNV
Germline

Chr17:74920334

Likely pathogenic

Usher syndrome

Criteria Provided
Single Submitter

CA400965006

rs_1226851798

1 SubmittersRCV001825113

NM_022124.6(CDH23):c.5535C>A (p.Asn1845Lys)

SNV
Germline

Chr10:71784923

Pathogenic

Usher syndrome

No Assertion Criteria Provided

CA377146442

rs_779425775

1 SubmittersRCV002274223

NM_206933.4(USH2A):c.6845T>G (p.Leu2282Ter)

SNV
Unknown

Chr1:215970737

Pathogenic

Usher syndrome type 2A

Criteria Provided
Single Submitter

CA344854517

rs_2102458475

1 SubmittersRCV001842255

NM_206933.4(USH2A):c.9259G>A (p.Val3087Ile)

SNV
Germline

Chr1:215838103

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
Usher syndrome

Criteria Provided
Conflicting Classifications

CA1394364

rs_200382994

8 SubmittersRCV002543341 RCV003464157 RCV005014688 RCV003888334 RCV005409026

NM_206933.4(USH2A):c.3546T>A (p.Tyr1182Ter)

SNV
Germline

Chr1:216199892

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344868200

rs_762167370

3 SubmittersRCV001870273 RCV002236182 RCV003451998

NM_000260.4(MYO7A):c.6043T>C (p.Tyr2015His)

SNV
Germline

Chr11:77208795

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA6198905

rs_377640847

2 SubmittersRCV001984277 RCV005433113

NM_206933.4(USH2A):c.9920G>A (p.Cys3307Tyr)

SNV
Germline

Chr1:215798945

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA37448504

rs_983763783

3 SubmittersRCV001894349 RCV005057707 RCV002246560

NM_206933.4(USH2A):c.907C>A (p.Arg303Ser)

SNV
Germline

Chr1:216325541

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1396647

rs_748465849

5 SubmittersRCV001939275 RCV003324571 RCV003453815 RCV003471091

NM_206933.4(USH2A):c.847A>G (p.Arg283Gly)

SNV
Germline

Chr1:216327592

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
not specified

Criteria Provided
Conflicting Classifications

CA344912802

rs_2102658767

4 SubmittersRCV001905747 RCV005006157 RCV004690157

NM_032119.4(ADGRV1):c.2848G>C (p.Gly950Arg)

SNV
Germline

Chr5:90644819

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2

Criteria Provided
Conflicting Classifications

CA3339029

rs_569112173

4 SubmittersRCV002050283 RCV005361933

NM_153676.4(USH1C):c.658C>T (p.Arg220Ter)

SNV
Germline

Chr11:17526363

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive nonsyndromic hearing loss 18A
Autosomal recessive nonsyndromic hearing loss 18A
Usher syndrome type 1
Usher syndrome type 1C
Autosomal recessive nonsyndromic hearing loss 18A
Usher syndrome type 1C

Criteria Provided
Multiple Submitters
No Conflicts

CA5904933

rs_766327614

4 SubmittersRCV001929565 RCV003471069 RCV005397160 RCV005042540

NM_022124.6(CDH23):c.7210C>T (p.Gln2404Ter)

SNV
Germline

Chr10:71799266

Pathogenic

Condition: not provided
Pituitary adenoma 5, multiple types
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA377158988

rs_2132968121

3 SubmittersRCV001960582 RCV003475219 RCV004801108

NM_206933.4(USH2A):c.7120+1G>A

SNV
Germline

Chr1:215965316

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344851732

rs_1667311758

4 SubmittersRCV002000554 RCV005008349 RCV005614747 RCV003464353

NM_206933.4(USH2A):c.1985G>C (p.Cys662Ser)

SNV
Germline

Chr1:216251085

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344866806

rs_1487450999

3 SubmittersRCV001920814 RCV002246593

NM_001384140.1(PCDH15):c.3122+1G>T

SNV
Germline

Chr10:53959731

Likely pathogenic

Condition: not provided
Usher syndrome type 1F

Criteria Provided
Multiple Submitters
No Conflicts

CA376520682

rs_982893820

2 SubmittersRCV001972905 RCV002571248

NM_001384140.1(PCDH15):c.3433C>T (p.Gln1145Ter)

SNV
Germline

Chr10:53903311

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome type 1F

Criteria Provided
Multiple Submitters
No Conflicts

CA376525658

rs_1200451014

2 SubmittersRCV001932211 RCV002548051

NM_206933.4(USH2A):c.7569G>A (p.Trp2523Ter)

SNV
Germline

Chr1:215900100

Pathogenic

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344847047

rs_2102469493

2 SubmittersRCV001970166 RCV005016949

NM_206933.4(USH2A):c.4217C>A (p.Ser1406Ter)

SNV
Germline

Chr1:216196587

Pathogenic

Condition: not provided
Retinitis pigmentosa 39
Usher syndrome
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344866217

rs_1308702971

5 SubmittersRCV001950926 RCV003464309 RCV002469440 RCV003453869

NM_032119.4(ADGRV1):c.17455-2A>T

SNV
Germline

Chr5:90854060

Likely pathogenic

Condition: not provided
Usher syndrome type 2C
Febrile seizures, familial, 4

Criteria Provided
Multiple Submitters
No Conflicts

CA360430417

rs_1279862720

2 SubmittersRCV002045738 RCV005042686

NM_032119.4(ADGRV1):c.5005A>G (p.Ile1669Val)

SNV
Germline

Chr5:90674129

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2

Criteria Provided
Conflicting Classifications

CA3339462

rs_760285831

3 SubmittersRCV001881823 RCV003994348

NM_206933.4(USH2A):c.8002G>T (p.Glu2668Ter)

SNV
Germline

Chr1:215888647

Pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344839272

rs_2102460193

3 SubmittersRCV004796671 RCV001907542 RCV004571444

NM_032119.4(ADGRV1):c.14971C>T (p.Arg4991Ter)

SNV
Germline

Chr5:90807736

Pathogenic

Condition: not provided
Febrile seizures, familial, 4
Usher syndrome type 2C
ADGRV1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA360406743

rs_1233334494

4 SubmittersRCV001987726 RCV005042575 RCV005057820

NM_206933.4(USH2A):c.6986C>A (p.Pro2329His)

SNV
Germline

Chr1:215965451

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA1394975

rs_554957414

3 SubmittersRCV001977563 RCV005406246

NM_000260.4(MYO7A):c.796C>T (p.Gln266Ter)

SNV
Germline

Chr11:77157339

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA381932501

rs_2135244869

2 SubmittersRCV001891031 RCV002307784

NM_032119.4(ADGRV1):c.10007C>T (p.Ser3336Phe)

SNV
Germline

Chr5:90725186

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3340642

rs_781697491

3 SubmittersRCV001947369 RCV004017876 RCV005320922

NM_001384140.1(PCDH15):c.1399C>T (p.Gln467Ter)

SNV
Germline

Chr10:54185175

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome type 1F
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 23

Criteria Provided
Multiple Submitters
No Conflicts

CA376515255

rs_2133817680

2 SubmittersRCV001963061 RCV002479590

NM_206933.4(USH2A):c.5356C>T (p.Gln1786Ter)

SNV
Germline

Chr1:216078305

Pathogenic

Condition: not provided
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344856523

rs_2102554503

3 SubmittersRCV001890211 RCV003136242

NM_032119.4(ADGRV1):c.3931A>G (p.Thr1311Ala)

SNV
Germline

Chr5:90653505

Conflicting classifications of pathogenicity

Condition: not provided
Febrile seizures, familial, 4
Usher syndrome type 2C

Criteria Provided
Conflicting Classifications

CA3339259

rs_776663458

2 SubmittersRCV001987856 RCV002507669

NM_032119.4(ADGRV1):c.6610C>T (p.Gln2204Ter)

SNV
Germline

Chr5:90689980

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome type 2C
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA360366505

rs_1053590019

3 SubmittersRCV001988069 RCV002442931 RCV005238101

NM_206933.4(USH2A):c.6957+1G>C

SNV
Germline

Chr1:215970624

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344853824

rs_2102458321

4 SubmittersRCV002005489 RCV002507733 RCV003446976 RCV003446977

NM_032119.4(ADGRV1):c.449A>G (p.Asn150Ser)

SNV
Germline

Chr5:90619177

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2C
Febrile seizures, familial, 4

Criteria Provided
Conflicting Classifications

CA3338465

rs_775440063

2 SubmittersRCV002029152 RCV002498025

NM_206933.4(USH2A):c.9440G>A (p.Trp3147Ter)

SNV
Germline

Chr1:215817127

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344825133

rs_1662880811

4 SubmittersRCV001929149 RCV002236189 RCV003452179 RCV005016864

NM_206933.4(USH2A):c.2779C>T (p.Gln927Ter)

SNV
Germline

Chr1:216246615

Pathogenic/Likely pathogenic

Usher syndrome type 2
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344864055

rs_1438734382

5 SubmittersRCV002307769 RCV002040066 RCV003451986 RCV003451985

NM_022124.6(CDH23):c.8433G>A (p.Trp2811Ter)

SNV
Germline

Chr10:71807640

Pathogenic

Condition: not provided
Usher syndrome type 1D

Criteria Provided
Multiple Submitters
No Conflicts

CA5546651

rs_757053706

2 SubmittersRCV001864465 RCV005253915

NM_174878.3(CLRN1):c.563C>A (p.Ser188Ter)

SNV
Germline

Chr3:150928072

Pathogenic

Condition: not provided
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA354953048

rs_2107927808

2 SubmittersRCV001993130 RCV005238105

NM_001384140.1(PCDH15):c.3688A>T (p.Lys1230Ter)

SNV
Germline

Chr10:53866671

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome type 1F
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 23

Criteria Provided
Multiple Submitters
No Conflicts

CA376516498

rs_2079479378

2 SubmittersRCV002007173 RCV005050478

NM_000260.4(MYO7A):c.2513G>A (p.Trp838Ter)

SNV
Germline

Chr11:77179880

Pathogenic

Condition: not provided
MYO7A-related disorder
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2

Criteria Provided
Multiple Submitters
No Conflicts

CA381941862

rs_1334199217

3 SubmittersRCV002000060 RCV004538679 RCV005002713

NM_022124.6(CDH23):c.2591G>T (p.Gly864Val)

SNV
Germline

Chr10:71702552

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1D
Pituitary adenoma 5, multiple types
Autosomal recessive nonsyndromic hearing loss 12

Criteria Provided
Conflicting Classifications

CA377137971

rs_1317670560

3 SubmittersRCV001955438 RCV005042559

NM_206933.4(USH2A):c.12100G>T (p.Glu4034Ter)

SNV
Germline

Chr1:215680343

Pathogenic

Usher syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA344816686

rs_794729203

2 SubmittersRCV004699134 RCV001945782

NM_206933.4(USH2A):c.14134-3169A>G

SNV
Germline

Chr1:215653970

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome
Retinitis pigmentosa 39
Retinitis pigmentosa
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA37395270

rs_998302546

4 SubmittersRCV001989163 RCV003324581 RCV003446982 RCV003324580 RCV003446981

NM_032119.4(ADGRV1):c.13340G>A (p.Gly4447Asp)

SNV
Germline

Chr5:90783232

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2C

Criteria Provided
Conflicting Classifications

CA3341503

rs_532839486

3 SubmittersRCV001989208 RCV002466733

NM_206933.4(USH2A):c.7525C>T (p.Arg2509Trp)

SNV
Germline

Chr1:215900144

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1394814

rs_1394948601

4 SubmittersRCV001893744 RCV003471017 RCV005016780 RCV003888392

NM_206933.4(USH2A):c.13000C>T (p.Gln4334Ter)

SNV
Germline

Chr1:215674911

Pathogenic

Condition: not provided
Usher syndrome type 2

Criteria Provided
Single Submitter

CA37412784

rs_367850936

2 SubmittersRCV002037975 RCV002307811

NM_032119.4(ADGRV1):c.12211C>T (p.Arg4071Ter)

SNV
Germline

Chr5:90763395

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome
ADGRV1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA360378075

rs_1163308590

4 SubmittersRCV001879280 RCV004801071 RCV004738411

NM_174878.3(CLRN1):c.253+1G>A

SNV
Germline

Chr3:150972455

Likely pathogenic

Condition: not provided
Usher syndrome type 3A
Retinitis pigmentosa 61

Criteria Provided
Multiple Submitters
No Conflicts

CA355011730

rs_1329440649

2 SubmittersRCV002016936 RCV005032114

NM_206933.4(USH2A):c.7168G>T (p.Gly2390Ter)

SNV
Germline

Chr1:215934748

Pathogenic

Usher syndrome type 2A
Condition: not provided
Usher syndrome type 2
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344857854

rs_376983577

5 SubmittersRCV003453865 RCV001970023 RCV002307814 RCV005016947

NM_022124.6(CDH23):c.3579+2T>C

SNV
Germline

Chr10:71725522

Pathogenic/Likely pathogenic

Condition: not provided
Pituitary adenoma 5, multiple types
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA377153130

rs_1385831846

4 SubmittersRCV001956332 RCV003475245 RCV003136378 RCV003230720

NM_022124.6(CDH23):c.8308+1G>A

SNV
Germline

Chr10:71807407

Likely pathogenic

Condition: not provided
Pituitary adenoma 5, multiple types
Pituitary adenoma 5, multiple types
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12

Criteria Provided
Multiple Submitters
No Conflicts

CA377131272

rs_757675676

3 SubmittersRCV002026411 RCV003475292 RCV005042687

NM_206933.4(USH2A):c.5528C>T (p.Pro1843Leu)

SNV
Germline

Chr1:216078133

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA37441295

rs_200209833

3 SubmittersRCV001925319 RCV005016795 RCV004587245

NM_206933.4(USH2A):c.14489C>G (p.Ser4830Ter)

SNV
Germline

Chr1:215648621

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1393018

rs_184351619

5 SubmittersRCV001956100 RCV003453876 RCV003453877 RCV002497885

NM_206933.4(USH2A):c.9874C>T (p.Gln3292Ter)

SNV
Germline

Chr1:215798991

Pathogenic

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344848988

rs_2102778615

4 SubmittersRCV001956108 RCV003453878 RCV004571741

NM_000260.4(MYO7A):c.5510T>A (p.Leu1837His)

SNV
Germline

Chr11:77205491

Pathogenic

Condition: not provided
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA381952897

rs_1385324903

2 SubmittersRCV001956140 RCV003324573

NM_206933.4(USH2A):c.5573-2A>G

SNV
Germline

Chr1:216073302

Pathogenic

Condition: not provided
Usher syndrome type 2A

Criteria Provided
Single Submitter

CA37437522

rs_1045789152

2 SubmittersRCV001953615 RCV005614739

NM_206933.4(USH2A):c.4325T>C (p.Phe1442Ser)

SNV
Germline

Chr1:216190294

Pathogenic

Condition: not provided
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA1395749

rs_766108245

2 SubmittersRCV002044917 RCV004782799

NM_032119.4(ADGRV1):c.8875C>T (p.Arg2959Ter)

SNV
Germline

Chr5:90711031

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome type 2C
Febrile seizures, familial, 4

Criteria Provided
Multiple Submitters
No Conflicts

CA3340389

rs_768035707

3 SubmittersRCV001956515 RCV005032021

NM_000260.4(MYO7A):c.6559-13C>G

SNV
Germline

Chr11:77214594

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1

Criteria Provided
Conflicting Classifications

CA2573147850

rs_2135804929

2 SubmittersRCV001962497 RCV005052845

NM_206933.4(USH2A):c.11806A>C (p.Thr3936Pro)

SNV
Germline

Chr1:215728290

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344829290

rs_2102713705

3 SubmittersRCV002026997 RCV004571989 RCV005254021

NM_206933.4(USH2A):c.2167+15A>G

SNV
Germline

Chr1:216250888

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA1396291

rs_779599960

2 SubmittersRCV001913997 RCV002484545

NM_000260.4(MYO7A):c.6051+2T>C

SNV
Germline

Chr11:77208805

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA381934783

rs_1353598791

2 SubmittersRCV001955084 RCV004782828

NM_032119.4(ADGRV1):c.7202T>C (p.Met2401Thr)

SNV
Germline

Chr5:90693958

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2C
Febrile seizures, familial, 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA122797324

rs_997831285

3 SubmittersRCV001876477 RCV002482465 RCV005564936

NM_206933.4(USH2A):c.4304A>C (p.Lys1435Thr)

SNV
Germline

Chr1:216190315

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1395753

rs_752059469

3 SubmittersRCV002022445 RCV002486640 RCV005301068

NM_002109.6(HARS1):c.1105A>G (p.Met369Val)

SNV
Germline

Chr5:140676743

Conflicting classifications of pathogenicity

Usher syndrome type 3B
not specified

Criteria Provided
Conflicting Classifications

CA3443925

rs_749991162

2 SubmittersRCV002236495 RCV004047271

NM_002109.6(HARS1):c.951+5G>T

SNV
Germline

Chr5:140676984

Conflicting classifications of pathogenicity

Usher syndrome type 3B
Condition: not provided
HARS1-related multi-system ataxia syndrome

Criteria Provided
Conflicting Classifications

CA804731779

rs_1473283139

3 SubmittersRCV002237446 RCV003227065 RCV005242206

NM_002109.6(HARS1):c.397-11T>G

SNV
Germline

Chr5:140679138

Conflicting classifications of pathogenicity

Usher syndrome type 3B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3444113

rs_763198737

2 SubmittersRCV002237473 RCV003235686

NM_000260.4(MYO7A):c.4207G>T (p.Glu1403Ter)

SNV
Germline

Chr11:77194408

Pathogenic

Usher syndrome type 1

Criteria Provided
Single Submitter

CA381949186

rs_916332384

1 SubmittersRCV002245268

NM_000260.4(MYO7A):c.6238-1G>C

SNV
Germline

Chr11:77211820

Likely pathogenic

Usher syndrome type 1

No Assertion Criteria Provided

CA381936425

rs_1957902751

1 SubmittersRCV002245497

NM_022124.6(CDH23):c.5584G>A (p.Glu1862Lys)

SNV
Germline

Chr10:71784972

Likely pathogenic

Usher syndrome type 1D
Condition: not provided
Pituitary adenoma 5, multiple types

Criteria Provided
Multiple Submitters
No Conflicts

CA5545813

rs_773004408

3 SubmittersRCV002248985 RCV003774706 RCV003475309

NM_001384140.1(PCDH15):c.1441-1G>T

SNV
Germline

Chr10:54183594

Pathogenic

Usher syndrome type 1D

Criteria Provided
Single Submitter

CA376514774

rs_2133801703

1 SubmittersRCV002250176

NM_022124.6(CDH23):c.3431-1G>A

SNV
Germline

Chr10:71725371

Pathogenic

Usher syndrome type 1D

Criteria Provided
Single Submitter

CA377151917

rs_2132804878

1 SubmittersRCV002250926

NM_206933.4(USH2A):c.4858C>T (p.Gln1620Ter)

SNV
Germline

Chr1:216089040

Likely pathogenic

Usher syndrome type 2A

Criteria Provided
Single Submitter

CA344860647

rs_746900872

1 SubmittersRCV002251041

NM_032119.4(ADGRV1):c.16196+1G>T

SNV
Germline

Chr5:90815737

Likely pathogenic

Usher syndrome

Criteria Provided
Single Submitter

CA360412760

rs_1326895760

1 SubmittersRCV002266138

NM_022124.6(CDH23):c.3220+1G>A

SNV
Germline

Chr10:71709212

Conflicting classifications of pathogenicity

Usher syndrome type 1
Usher syndrome type 1D
Condition: not provided

Criteria Provided
Conflicting Classifications

CA377143462

rs_1487026359

3 SubmittersRCV002267650 RCV003679087

NM_022124.6(CDH23):c.5369-1G>A

SNV
Germline

Chr10:71784286

Likely pathogenic

Usher syndrome type 1
Usher syndrome type 1D

Criteria Provided
Single Submitter

CA377144292

rs_1564791773

1 SubmittersRCV002267651

NM_206933.4(USH2A):c.8480T>A (p.Leu2827Ter)

SNV
Germline

Chr1:215878842

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344830612

rs_2102451648

3 SubmittersRCV002272595 RCV003774864 RCV005017180

NM_153676.4(USH1C):c.388-1G>A

SNV
Germline

Chr11:17527332

Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 18A
Autosomal recessive nonsyndromic hearing loss 18A
Usher syndrome type 1C

Criteria Provided
Multiple Submitters
No Conflicts

CA379795365

rs_1364331716

3 SubmittersRCV002272821 RCV005050552

NM_032119.4(ADGRV1):c.6778C>T (p.Arg2260Ter)

SNV
Germline

Chr5:90690868

Likely pathogenic

Usher syndrome

Criteria Provided
Single Submitter

CA3339873

rs_779821643

1 SubmittersRCV002282930

NM_206933.4(USH2A):c.12708T>A (p.Cys4236Ter)

SNV
Germline

Chr1:215675203

Pathogenic

Usher syndrome type 2A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA344849692

rs_2464898805

2 SubmittersRCV002283787 RCV005096037

NM_206933.4(USH2A):c.486-2A>C

SNV
Germline

Chr1:216418681

Likely pathogenic

Usher syndrome type 2A

Criteria Provided
Single Submitter

CA344902914

rs_2527646544

1 SubmittersRCV002283815

NM_001267727.2(ARSG):c.982+1G>C

SNV
Germline

Chr17:68370525

Likely pathogenic

Usher syndrome, type 4

Criteria Provided
Single Submitter

CA400746923

rs_1302913513

1 SubmittersRCV002284019

NM_206933.4(USH2A):c.8141G>A (p.Trp2714Ter)

SNV
Germline

Chr1:215888508

Pathogenic

Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344838673

rs_1238086961

2 SubmittersRCV002284020

NM_174878.3(CLRN1):c.253+6T>C

SNV
Germline

Chr3:150972450

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 3A
Retinitis pigmentosa 61
Retinitis pigmentosa 61

Criteria Provided
Conflicting Classifications

CA547369145

rs_1287122500

4 SubmittersRCV002284799 RCV005032222 RCV003471314

NM_206933.4(USH2A):c.10817T>C (p.Leu3606Pro)

SNV
Germline

Chr1:215779965

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome

Criteria Provided
Conflicting Classifications

CA344834094

rs_1402464909

5 SubmittersRCV002287043 RCV003471315 RCV005008520 RCV004700715

NM_206933.4(USH2A):c.3158-1G>T

SNV
Germline

Chr1:216207432

Likely pathogenic

Usher syndrome type 2A

Criteria Provided
Single Submitter

CA344862648

rs_1231186035

1 SubmittersRCV002289261

NM_022124.6(CDH23):c.2746G>A (p.Asp916Asn)

SNV
Germline

Chr10:71704923

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 12
Condition: not provided
not specified
Usher syndrome type 1D

Criteria Provided
Conflicting Classifications

CA377139449

rs_1318444606

5 SubmittersRCV002292372 RCV003101685 RCV004700717 RCV005052857

NM_206933.4(USH2A):c.1850G>A (p.Cys617Tyr)

SNV
Germline

Chr1:216289401

Pathogenic

Usher syndrome type 2

No Assertion Criteria Provided

CA344902953

rs_2528250720

1 SubmittersRCV002308732

NM_206933.4(USH2A):c.9187A>T (p.Lys3063Ter)

SNV
Germline

Chr1:215844365

Pathogenic

Usher syndrome type 2

No Assertion Criteria Provided

CA344838715

rs_1663780024

1 SubmittersRCV002308734

NM_206933.4(USH2A):c.7809C>A (p.Cys2603Ter)

SNV
Germline

Chr1:215888840

Likely pathogenic

Usher syndrome type 2
Retinitis pigmentosa 39

Criteria Provided
Single Submitter

CA344839871

rs_766915522

2 SubmittersRCV002308735 RCV003464446

NM_206933.4(USH2A):c.8860C>T (p.Gln2954Ter)

SNV
Unknown

Chr1:215846019

Likely pathogenic

Usher syndrome type 2A

Criteria Provided
Single Submitter

CA344842198

rs_2464612427

1 SubmittersRCV002306476

NM_206933.4(USH2A):c.13301C>A (p.Ser4434Ter)

SNV
Unknown

Chr1:215674610

Likely pathogenic

Usher syndrome type 2A

Criteria Provided
Single Submitter

CA344845802

rs_2464896029

1 SubmittersRCV002306489

NM_001384140.1(PCDH15):c.4015A>T (p.Lys1339Ter)

SNV
Unknown

Chr10:53831502

Likely pathogenic

Usher syndrome type 1D

Criteria Provided
Single Submitter

CA376528561

rs_2492659568

1 SubmittersRCV002306497

NM_206933.4(USH2A):c.11099T>A (p.Leu3700Ter)

SNV
Unknown

Chr1:215759792

Likely pathogenic

Usher syndrome type 2A

Criteria Provided
Single Submitter

CA344823122

rs_2465090971

1 SubmittersRCV002306560

NM_206933.4(USH2A):c.5902G>T (p.Gly1968Ter)

SNV
Unknown

Chr1:216070248

Likely pathogenic

Usher syndrome type 2A

Criteria Provided
Single Submitter

CA344862206

rs_2527770006

1 SubmittersRCV002306587

NM_206933.4(USH2A):c.4000A>T (p.Lys1334Ter)

SNV
Unknown

Chr1:216198396

Likely pathogenic

Usher syndrome type 2A

Criteria Provided
Single Submitter

CA344867016

rs_2528041334

1 SubmittersRCV002306604

NM_206933.4(USH2A):c.2683C>T (p.Gln895Ter)

SNV
Unknown

Chr1:216246711

Likely pathogenic

Usher syndrome type 2A

Criteria Provided
Single Submitter

CA344864266

rs_2528161607

1 SubmittersRCV002306607

NM_001384140.1(PCDH15):c.3745C>T (p.Gln1249Ter)

SNV
Unknown

Chr10:53857236

Likely pathogenic

Usher syndrome type 1D

Criteria Provided
Single Submitter

CA376514375

rs_1472644881

1 SubmittersRCV002306621

NM_000260.4(MYO7A):c.802A>T (p.Lys268Ter)

SNV
Unknown

Chr11:77157345

Likely pathogenic

Usher syndrome type 1

Criteria Provided
Single Submitter

CA381932528

rs_2496764008

1 SubmittersRCV002306622

NM_206933.4(USH2A):c.12993T>A (p.Tyr4331Ter)

SNV
Unknown

Chr1:215674918

Likely pathogenic

Usher syndrome type 2A

Criteria Provided
Single Submitter

CA344847913

rs_1220617136

1 SubmittersRCV002306660

NM_206933.4(USH2A):c.8233A>T (p.Lys2745Ter)

SNV
Unknown

Chr1:215879089

Likely pathogenic

Usher syndrome type 2A

Criteria Provided
Single Submitter

CA344832772

rs_2102452018

1 SubmittersRCV002306722

NM_153676.4(USH1C):c.81T>A (p.Tyr27Ter)

SNV
Unknown

Chr11:17533278

Likely pathogenic

Usher syndrome type 1C

Criteria Provided
Single Submitter

CA379800535

rs_2497241282

1 SubmittersRCV002306741

NM_206933.4(USH2A):c.4651A>T (p.Lys1551Ter)

SNV
Unknown

Chr1:216097190

Likely pathogenic

Usher syndrome type 2A

Criteria Provided
Single Submitter

CA344861384

rs_2527835936

1 SubmittersRCV002306777

NM_206933.4(USH2A):c.658C>T (p.Gln220Ter)

SNV
Unknown

Chr1:216365079

Likely pathogenic

Usher syndrome type 2A

Criteria Provided
Single Submitter

CA344908771

rs_2527531653

1 SubmittersRCV002306788

NM_000260.4(MYO7A):c.1237A>T (p.Lys413Ter)

SNV
Unknown

Chr11:77161009

Likely pathogenic

Usher syndrome type 1

Criteria Provided
Single Submitter

CA381934920

rs_2496844332

1 SubmittersRCV002309670

NM_206933.4(USH2A):c.9379C>T (p.Gln3127Ter)

SNV
Unknown

Chr1:215817188

Likely pathogenic

Usher syndrome type 2A

Criteria Provided
Single Submitter

CA344825472

rs_2464521290

1 SubmittersRCV002309747

NM_153676.4(USH1C):c.2275A>T (p.Lys759Ter)

SNV
Unknown

Chr11:17501487

Likely pathogenic

Usher syndrome type 1C

Criteria Provided
Single Submitter

CA379803332

rs_2497003503

1 SubmittersRCV002309758

NM_206933.4(USH2A):c.10843A>T (p.Lys3615Ter)

SNV
Unknown

Chr1:215779939

Likely pathogenic

Usher syndrome type 2A

Criteria Provided
Single Submitter

CA344833847

rs_769795486

1 SubmittersRCV002309827

NM_000260.4(MYO7A):c.2998A>T (p.Lys1000Ter)

SNV
Unknown

Chr11:77182044

Likely pathogenic

Usher syndrome type 1

Criteria Provided
Single Submitter

CA381944022

rs_558458890

1 SubmittersRCV002309830

NM_000260.4(MYO7A):c.3779T>A (p.Leu1260Ter)

SNV
Unknown

Chr11:77190725

Likely pathogenic

Usher syndrome type 1

Criteria Provided
Single Submitter

CA381947432

rs_1955997471

1 SubmittersRCV002309931

NM_206933.4(USH2A):c.10486G>T (p.Glu3496Ter)

SNV
Unknown

Chr1:215782837

Likely pathogenic

Usher syndrome type 2A

Criteria Provided
Single Submitter

CA344837758

rs_2464394481

1 SubmittersRCV002310055

NM_001384140.1(PCDH15):c.3112G>T (p.Glu1038Ter)

SNV
Unknown

Chr10:53959742

Likely pathogenic

Usher syndrome type 1D

Criteria Provided
Single Submitter

CA376520752

rs_2495074114

1 SubmittersRCV002307868

NM_206933.4(USH2A):c.8303T>A (p.Leu2768Ter)

SNV
Unknown

Chr1:215879019

Likely pathogenic

Usher syndrome type 2A

Criteria Provided
Single Submitter

CA344832313

rs_2464717567

1 SubmittersRCV002307919

NM_001384140.1(PCDH15):c.3613A>T (p.Lys1205Ter)

SNV
Unknown

Chr10:53866746

Likely pathogenic

Usher syndrome type 1D

Criteria Provided
Single Submitter

CA376517136

rs_2493336185

1 SubmittersRCV002307948

NM_206933.4(USH2A):c.9055G>T (p.Glu3019Ter)

SNV
Unknown

Chr1:215845824

Likely pathogenic

Usher syndrome type 2A

Criteria Provided
Single Submitter

CA344840126

rs_2464610781

1 SubmittersRCV002307971

NM_206933.4(USH2A):c.13447G>T (p.Gly4483Ter)

SNV
Unknown

Chr1:215674464

Likely pathogenic

Usher syndrome type 2A

Criteria Provided
Single Submitter

CA344845181

rs_774714334

1 SubmittersRCV002308059

NM_206933.4(USH2A):c.9607G>T (p.Gly3203Ter)

SNV
Unknown

Chr1:215813868

Likely pathogenic

Usher syndrome type 2A

Criteria Provided
Single Submitter

CA344822151

rs_2464509726

1 SubmittersRCV002308101

NM_000260.4(MYO7A):c.4363A>T (p.Lys1455Ter)

SNV
Unknown

Chr11:77197520

Likely pathogenic

Usher syndrome type 1

Criteria Provided
Single Submitter

CA381950010

rs_2497545192

1 SubmittersRCV002308117

NM_206933.4(USH2A):c.2451C>A (p.Cys817Ter)

SNV
Unknown

Chr1:216246943

Likely pathogenic

Usher syndrome type 2A

Criteria Provided
Single Submitter

CA344864771

rs_2102545764

1 SubmittersRCV002308222

NM_206933.4(USH2A):c.10580C>G (p.Ser3527Ter)

SNV
Unknown

Chr1:215782743

Likely pathogenic

Usher syndrome type 2A

Criteria Provided
Single Submitter

CA344837257

rs_2464394078

1 SubmittersRCV002308228

NM_000260.4(MYO7A):c.6403A>T (p.Lys2135Ter)

SNV
Unknown

Chr11:77213000

Likely pathogenic

Usher syndrome type 1

Criteria Provided
Single Submitter

CA381937566

rs_2497831020

1 SubmittersRCV002308351

NM_206933.4(USH2A):c.13646T>A (p.Leu4549Ter)

SNV
Unknown

Chr1:215674265

Likely pathogenic

Usher syndrome type 2A

Criteria Provided
Single Submitter

CA344844107

rs_2464894203

1 SubmittersRCV002308352

NM_000260.4(MYO7A):c.5275A>T (p.Lys1759Ter)

SNV
Unknown

Chr11:77203166

Likely pathogenic

Usher syndrome type 1

Criteria Provided
Single Submitter

CA381952343

rs_1957190327

1 SubmittersRCV002309015

NM_000260.4(MYO7A):c.548C>A (p.Ser183Ter)

SNV
Unknown

Chr11:77156737

Likely pathogenic

Usher syndrome type 1

Criteria Provided
Single Submitter

CA381931903

rs_781893704

1 SubmittersRCV002309087

NM_153676.4(USH1C):c.916G>T (p.Glu306Ter)

SNV
Unknown

Chr11:17522887

Likely pathogenic

Usher syndrome type 1C

Criteria Provided
Single Submitter

CA379788064

rs_2497155958

1 SubmittersRCV002309090

NM_206933.4(USH2A):c.12961G>T (p.Glu4321Ter)

SNV
Unknown

Chr1:215674950

Likely pathogenic

Usher syndrome type 2A

Criteria Provided
Single Submitter

CA344848050

rs_2464897719

1 SubmittersRCV002309189

NM_206933.4(USH2A):c.11626A>T (p.Lys3876Ter)

SNV
Unknown

Chr1:215741460

Likely pathogenic

Usher syndrome type 2A

Criteria Provided
Single Submitter

CA344833622

rs_2465067641

1 SubmittersRCV002309239

NM_206933.4(USH2A):c.2317A>T (p.Lys773Ter)

SNV
Unknown

Chr1:216247077

Likely pathogenic

Usher syndrome type 2A

Criteria Provided
Single Submitter

CA344865101

rs_2528163373

1 SubmittersRCV002309244

NM_206933.4(USH2A):c.8182C>T (p.Gln2728Ter)

SNV
Unknown

Chr1:215888467

Likely pathogenic

Usher syndrome type 2A

Criteria Provided
Single Submitter

CA344838501

rs_2464747975

1 SubmittersRCV002309260

NM_206933.4(USH2A):c.3623G>A (p.Trp1208Ter)

SNV
Unknown

Chr1:216199815

Likely pathogenic

Usher syndrome type 2A

Criteria Provided
Single Submitter

CA344868035

rs_2528046090

1 SubmittersRCV002309278

NM_206933.4(USH2A):c.2377A>T (p.Lys793Ter)

SNV
Unknown

Chr1:216247017

Likely pathogenic

Usher syndrome type 2A

Criteria Provided
Single Submitter

CA344864927

rs_2528163140

1 SubmittersRCV002309287

NM_206933.4(USH2A):c.3332T>A (p.Leu1111Ter)

SNV
Unknown

Chr1:216200106

Likely pathogenic

Usher syndrome type 2A

Criteria Provided
Single Submitter

CA344869106

rs_2528047332

1 SubmittersRCV002309369

NM_001384140.1(PCDH15):c.1423C>T (p.Gln475Ter)

SNV
Unknown

Chr10:54185151

Likely pathogenic

Usher syndrome type 1D

Criteria Provided
Single Submitter

CA376515081

rs_2539507853

1 SubmittersRCV002309418

NM_001384140.1(PCDH15):c.1231G>T (p.Gly411Ter)

SNV
Unknown

Chr10:54195757

Likely pathogenic

Usher syndrome type 1D

Criteria Provided
Single Submitter

CA376518881

rs_2133924160

1 SubmittersRCV002309449

NM_206933.4(USH2A):c.8668A>T (p.Lys2890Ter)

SNV
Unknown

Chr1:215877771

Likely pathogenic

Usher syndrome type 2A

Criteria Provided
Single Submitter

CA344828904

rs_2464713058

1 SubmittersRCV002306837

NM_206933.4(USH2A):c.3811G>T (p.Gly1271Ter)

SNV
Unknown

Chr1:216199627

Likely pathogenic

Usher syndrome type 2A

Criteria Provided
Single Submitter

CA344867633

rs_2528045056

1 SubmittersRCV002306862

NM_206933.4(USH2A):c.793C>T (p.Gln265Ter)

SNV
Germline

Chr1:216327646

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344912918

rs_1458430039

2 SubmittersRCV002306878 RCV005254059

NM_000260.4(MYO7A):c.6355C>T (p.Gln2119Ter)

SNV
Unknown

Chr11:77212952

Likely pathogenic

Usher syndrome type 1

Criteria Provided
Single Submitter

CA381937457

rs_1957972101

1 SubmittersRCV002306899

NM_001384140.1(PCDH15):c.251G>A (p.Trp84Ter)

SNV
Germline

Chr10:54378849

Pathogenic/Likely pathogenic

Usher syndrome type 1D
Condition: not provided
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 23
Usher syndrome type 1F

Criteria Provided
Multiple Submitters
No Conflicts

CA376540549

rs_2547872482

3 SubmittersRCV002306927 RCV003099158 RCV005042800

NM_206933.4(USH2A):c.1235G>A (p.Trp412Ter)

SNV
Unknown

Chr1:216324261

Likely pathogenic

Usher syndrome type 2A

Criteria Provided
Single Submitter

CA344911715

rs_2037681648

1 SubmittersRCV002307006

NM_206933.4(USH2A):c.14661C>A (p.Tyr4887Ter)

SNV
Unknown

Chr1:215647652

Likely pathogenic

Usher syndrome type 2A

Criteria Provided
Single Submitter

CA344831724

rs_2464811892

1 SubmittersRCV002307012

NM_000260.4(MYO7A):c.2425C>T (p.Gln809Ter)

SNV
Unknown

Chr11:77179792

Likely pathogenic

Usher syndrome type 1

Criteria Provided
Single Submitter

CA381941572

rs_1955013824

1 SubmittersRCV002307014

NM_000260.4(MYO7A):c.1642C>T (p.Gln548Ter)

SNV
Unknown

Chr11:77162940

Likely pathogenic

Usher syndrome type 1

Criteria Provided
Single Submitter

CA381936236

rs_2496886375

1 SubmittersRCV002307033

NM_206933.4(USH2A):c.6056T>A (p.Leu2019Ter)

SNV
Unknown

Chr1:216048641

Likely pathogenic

Usher syndrome type 2A

Criteria Provided
Single Submitter

CA344859815

rs_2527725818

1 SubmittersRCV002307180

NM_000260.4(MYO7A):c.1534G>T (p.Glu512Ter)

SNV
Unknown

Chr11:77162310

Likely pathogenic

Usher syndrome type 1

Criteria Provided
Single Submitter

CA381935780

rs_2496872707

1 SubmittersRCV002307334

NM_206933.4(USH2A):c.5831G>A (p.Trp1944Ter)

SNV
Unknown

Chr1:216072915

Likely pathogenic

Usher syndrome type 2A

Criteria Provided
Single Submitter

CA344853773

rs_2527776733

1 SubmittersRCV002307336

NM_000260.4(MYO7A):c.1974C>G (p.Tyr658Ter)

SNV
Unknown

Chr11:77174794

Likely pathogenic

Usher syndrome type 1

Criteria Provided
Single Submitter

CA381939192

rs_1954477050

1 SubmittersRCV002310071

NM_206933.4(USH2A):c.2269A>T (p.Lys757Ter)

SNV
Germline

Chr1:216247125

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA344865317

rs_2528163570

3 SubmittersRCV002310316 RCV003464447 RCV005096136

NM_000260.4(MYO7A):c.5179A>T (p.Lys1727Ter)

SNV
Unknown

Chr11:77203070

Likely pathogenic

Usher syndrome type 1

Criteria Provided
Single Submitter

CA381951997

rs_1187644045

1 SubmittersRCV002310329

NM_001384140.1(PCDH15):c.1105C>T (p.Gln369Ter)

SNV
Unknown

Chr10:54195883

Likely pathogenic

Usher syndrome type 1D

Criteria Provided
Single Submitter

CA376519834

rs_753408470

1 SubmittersRCV002310358

NM_001384140.1(PCDH15):c.3600T>A (p.Tyr1200Ter)

SNV
Unknown

Chr10:53866759

Likely pathogenic

Usher syndrome type 1D

Criteria Provided
Single Submitter

CA376517238

rs_768989856

1 SubmittersRCV002310434

NM_153676.4(USH1C):c.546G>A (p.Trp182Ter)

SNV
Germline

Chr11:17526786

Pathogenic/Likely pathogenic

Usher syndrome type 1C
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA379794417

rs_2497187064

2 SubmittersRCV002310518 RCV003565518

NM_206933.4(USH2A):c.13482T>A (p.Tyr4494Ter)

SNV
Unknown

Chr1:215674429

Likely pathogenic

Usher syndrome type 2A

Criteria Provided
Single Submitter

CA344845058

rs_2464895063

1 SubmittersRCV002310543

NM_000260.4(MYO7A):c.2089A>T (p.Lys697Ter)

SNV
Unknown

Chr11:77174909

Likely pathogenic

Usher syndrome type 1

Criteria Provided
Single Submitter

CA381939574

rs_2497079486

1 SubmittersRCV002308403

NM_000260.4(MYO7A):c.1348G>T (p.Glu450Ter)

SNV
Unknown

Chr11:77162124

Likely pathogenic

Usher syndrome type 1

Criteria Provided
Single Submitter

CA381935197

rs_1269622956

1 SubmittersRCV002308409

NM_206933.4(USH2A):c.6831T>A (p.Tyr2277Ter)

SNV
Unknown

Chr1:215970751

Likely pathogenic

Usher syndrome type 2A

Criteria Provided
Single Submitter

CA344854635

rs_1226437991

1 SubmittersRCV002308413

NM_000260.4(MYO7A):c.2743G>T (p.Glu915Ter)

SNV
Unknown

Chr11:77181428

Likely pathogenic

Usher syndrome type 1

Criteria Provided
Single Submitter

CA381942729

rs_2497202889

1 SubmittersRCV002308436

NM_206933.4(USH2A):c.1645-2A>G

SNV
Germline

Chr1:216292372

Pathogenic

Usher syndrome type 2
Condition: not provided
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344903665

rs_2528257197

4 SubmittersRCV002308477 RCV003099163 RCV003152795

NM_206933.4(USH2A):c.1860C>A (p.Cys620Ter)

SNV
Germline

Chr1:216289391

Pathogenic

Usher syndrome type 2

No Assertion Criteria Provided

CA344902932

rs_2528250682

1 SubmittersRCV002310609

NM_032119.4(ADGRV1):c.10198C>T (p.Gln3400Ter)

SNV
Germline

Chr5:90728705

Likely pathogenic

Usher syndrome type 2C

Criteria Provided
Single Submitter

CA360403711

rs_2531365389

1 SubmittersRCV002444381

NM_000260.4(MYO7A):c.471-2A>C

SNV
Germline

Chr11:77156658

Likely pathogenic

Usher syndrome type 1

Criteria Provided
Single Submitter

CA381931732

rs_1302543317

1 SubmittersRCV002463838

NM_153676.4(USH1C):c.387+1G>A

SNV
Germline

Chr11:17531153

Likely pathogenic

Usher syndrome type 1C
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 18A

Criteria Provided
Multiple Submitters
No Conflicts

CA379796589

rs_1850950786

3 SubmittersRCV002466904 RCV003565568 RCV004571170

NM_000260.4(MYO7A):c.721C>G (p.Arg241Gly)

SNV
Germline

Chr11:77156990

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2

Criteria Provided
Multiple Submitters
No Conflicts

CA381932292

rs_782166819

2 SubmittersRCV003037417 RCV005002926

NM_000260.4(MYO7A):c.3109-2A>G

SNV
Germline

Chr11:77182422

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome type 1
Retinal dystrophy
Usher syndrome type 1B
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA6197991

rs_781977497

5 SubmittersRCV003062434 RCV003155502 RCV004817192 RCV005608856 RCV005002927

NM_022124.6(CDH23):c.5101G>A (p.Glu1701Lys)

SNV
Germline

Chr10:71778222

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1D
Pituitary adenoma 5, multiple types
Autosomal recessive nonsyndromic hearing loss 12
Pituitary adenoma 5, multiple types
Usher syndrome

Criteria Provided
Conflicting Classifications

CA5545644

rs_764025875

5 SubmittersRCV003062274 RCV005045195 RCV003475493 RCV004579587

NM_206933.4(USH2A):c.10331G>A (p.Cys3444Tyr)

SNV
Germline

Chr1:215786726

Pathogenic/Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA344839740

rs_1167540054

4 SubmittersRCV003465946 RCV003455689 RCV003079016 RCV003388149

NM_206933.4(USH2A):c.6083A>G (p.Tyr2028Cys)

SNV
Germline

Chr1:216048614

Conflicting classifications of pathogenicity

Usher syndrome type 2A
Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Conflicting Classifications

CA1395242

rs_756571385

4 SubmittersRCV003455690 RCV003079018 RCV003226567

NM_032119.4(ADGRV1):c.13568G>C (p.Ser4523Thr)

SNV
Germline

Chr5:90783972

Conflicting classifications of pathogenicity

Febrile seizures, familial, 4
Usher syndrome type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3341554

rs_376673439

2 SubmittersRCV005045239 RCV003079062

NM_206933.4(USH2A):c.14174G>A (p.Trp4725Ter)

SNV
Germline

Chr1:215650761

Pathogenic

Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344835905

rs_2464821210

2 SubmittersRCV002651402 RCV005021661

NM_206933.4(USH2A):c.13546G>T (p.Gly4516Trp)

SNV
Germline

Chr1:215674365

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA344844674

rs_2464894731

3 SubmittersRCV002651404 RCV003459770 RCV004801297

NM_206933.4(USH2A):c.6488G>A (p.Trp2163Ter)

SNV
Germline

Chr1:215999056

Pathogenic

Condition: not provided
USH2A-related disorder
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA1395117

rs_763389877

3 SubmittersRCV002634339 RCV004725565 RCV005059181

NM_206933.4(USH2A):c.4758+1G>A

SNV
Germline

Chr1:216097082

Pathogenic

Condition: not provided
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA1395638

rs_751414710

3 SubmittersRCV002651413 RCV003445214

NM_206933.4(USH2A):c.4252-1G>A

SNV
Germline

Chr1:216190368

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344865627

rs_2528020496

2 SubmittersRCV002651415 RCV005011099

NM_206933.4(USH2A):c.3648C>A (p.Tyr1216Ter)

SNV
Germline

Chr1:216199790

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344867981

rs_147947402

2 SubmittersRCV002651417 RCV005011100

NM_206933.4(USH2A):c.2149T>G (p.Cys717Gly)

SNV
Germline

Chr1:216250921

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344866071

rs_1304016981

3 SubmittersRCV002651418 RCV004587448 RCV005011101

NM_206933.4(USH2A):c.11328T>G (p.Tyr3776Ter)

SNV
Germline

Chr1:215758656

Pathogenic

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA1393767

rs_749726310

3 SubmittersRCV002648031 RCV003889266 RCV005021658

NM_032119.4(ADGRV1):c.10075G>T (p.Glu3359Ter)

SNV
Germline

Chr5:90725570

Likely pathogenic

Usher syndrome

Criteria Provided
Single Submitter

CA360403206

rs_1434051128

1 SubmittersRCV002510398

NM_032119.4(ADGRV1):c.5665-231C>T

SNV
Germline

Chr5:90683355

Likely pathogenic

Usher syndrome type 2C

Criteria Provided
Single Submitter

CA2580073727

rs_2530815387

1 SubmittersRCV002510603

NM_206933.4(USH2A):c.1551-27A>G

SNV
Germline

Chr1:216322003

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Conflicting Classifications

CA528970345

rs_1300984501

2 SubmittersRCV003118874 RCV005254736

NM_206933.4(USH2A):c.2168-1G>T

SNV
Germline

Chr1:216247227

Likely pathogenic

Usher syndrome type 2A

Criteria Provided
Single Submitter

CA344865774

rs_748961218

1 SubmittersRCV002569458

NM_032119.4(ADGRV1):c.1969A>C (p.Asn657His)

SNV
Germline

Chr5:90635243

Conflicting classifications of pathogenicity

Condition: not provided
Febrile seizures, familial, 4
Usher syndrome type 2C

Criteria Provided
Conflicting Classifications

CA3338790

rs_747176117

2 SubmittersRCV002583682 RCV004796739

NM_032119.4(ADGRV1):c.1310G>A (p.Arg437Gln)

SNV
Germline

Chr5:90628633

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Usher syndrome type 2

Criteria Provided
Conflicting Classifications

CA3338668

rs_752560455

3 SubmittersRCV002583282 RCV002583283 RCV005356147

NM_206933.4(USH2A):c.1571C>A (p.Ala524Asp)

SNV
Germline

Chr1:216321956

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA1396469

rs_772624410

3 SubmittersRCV002594411 RCV003465791 RCV005008655

NM_206933.4(USH2A):c.8088T>A (p.Tyr2696Ter)

SNV
Germline

Chr1:215888561

Pathogenic

Condition: not provided
Usher syndrome type 2A

Criteria Provided
Single Submitter

CA344838911

rs_1400277861

2 SubmittersRCV002618044 RCV005608730

NM_032119.4(ADGRV1):c.3416+7A>G

SNV
Germline

Chr5:90651737

Conflicting classifications of pathogenicity

Condition: not provided
Febrile seizures, familial, 4
Usher syndrome type 2C

Criteria Provided
Conflicting Classifications

CA3339174

rs_770255299

2 SubmittersRCV002627262 RCV005042932

NM_032119.4(ADGRV1):c.2726T>C (p.Ile909Thr)

SNV
Germline

Chr5:90643975

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2

Criteria Provided
Conflicting Classifications

CA3338993

rs_574552282

2 SubmittersRCV002646737 RCV005356170

NM_032119.4(ADGRV1):c.15899C>G (p.Thr5300Ser)

SNV
Germline

Chr5:90811159

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 2C
Febrile seizures, familial, 4

Criteria Provided
Conflicting Classifications

CA3342001

rs_754346307

2 SubmittersRCV002720504 RCV005044942

NM_032119.4(ADGRV1):c.6491-1G>A

SNV
Germline

Chr5:90689860

Pathogenic/Likely pathogenic

Condition: not provided
Febrile seizures, familial, 4
Usher syndrome type 2C

Criteria Provided
Multiple Submitters
No Conflicts

CA122796955

rs_1010784407

2 SubmittersRCV002722035 RCV005044955

NM_206933.4(USH2A):c.8576G>C (p.Arg2859Pro)

SNV
Germline

Chr1:215877863

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome

Criteria Provided
Conflicting Classifications

CA344829905

rs_778272177

2 SubmittersRCV002760483 RCV003389512

NM_001384140.1(PCDH15):c.1306-2A>G

SNV
Germline

Chr10:54185270

Likely pathogenic

Condition: not provided
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 23
Usher syndrome type 1F

Criteria Provided
Multiple Submitters
No Conflicts

CA376515714

rs_2539511295

2 SubmittersRCV002766917 RCV005044975

NM_002109.6(HARS1):c.58G>A (p.Gly20Ser)

SNV
Germline

Chr5:140691247

Conflicting classifications of pathogenicity

Usher syndrome type 3B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3444229

rs_766547643

2 SubmittersRCV002785283 RCV003886583

NM_206933.4(USH2A):c.13010C>G (p.Thr4337Arg)

SNV
Germline

Chr1:215674901

Likely pathogenic

Condition: not provided
Usher syndrome type 2A

Criteria Provided
Single Submitter

CA344847848

rs_527236137

2 SubmittersRCV002815506 RCV005608779

NM_033056.4(PCDH15):c.5481C>A (p.Cys1827Ter)

SNV
Germline

Chr10:53822245

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive nonsyndromic hearing loss 23
Usher syndrome type 1D
Usher syndrome type 1F

Criteria Provided
Conflicting Classifications

CA376524872

rs_1588927571

2 SubmittersRCV002861765 RCV005045012

NM_206933.4(USH2A):c.15439C>T (p.Gln5147Ter)

SNV
Germline

Chr1:215628894

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344820801

rs_2464752503

2 SubmittersRCV002894102 RCV005008771

NM_206933.4(USH2A):c.10939+2T>G

SNV
Germline

Chr1:215779841

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344832941

rs_1661573417

2 SubmittersRCV002907698 RCV005019428

NM_174878.3(CLRN1):c.528T>A (p.Tyr176Ter)

SNV
Germline

Chr3:150928107

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 61
Usher syndrome type 3A

Criteria Provided
Multiple Submitters
No Conflicts

CA354953127

rs_121908140

2 SubmittersRCV002886253 RCV005034454

NM_000260.4(MYO7A):c.5659C>T (p.Pro1887Ser)

SNV
Germline

Chr11:77206119

Likely pathogenic

Condition: not provided
Usher syndrome type 1B

Criteria Provided
Single Submitter

CA6198787

rs_779796704

2 SubmittersRCV003015663 RCV005608826

NM_206933.4(USH2A):c.13391G>A (p.Trp4464Ter)

SNV
Germline

Chr1:215674520

Pathogenic

Condition: not provided
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344845425

rs_2464895579

2 SubmittersRCV003038682 RCV004594662

NM_206933.4(USH2A):c.14583-1G>T

SNV
Germline

Chr1:215647731

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344832342

rs_1417934743

4 SubmittersRCV003056436 RCV003445198 RCV005019585

NM_001384140.1(PCDH15):c.3232+1G>A

SNV
Germline

Chr10:53940865

Pathogenic/Likely pathogenic

Usher syndrome type 1F
Condition: not provided
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 23
Usher syndrome type 1F

Criteria Provided
Multiple Submitters
No Conflicts

CA376517278

rs_1476947005

4 SubmittersRCV002789951 RCV003720762 RCV005047401

NM_001384140.1(PCDH15):c.1784+1G>T

SNV
Germline

Chr10:54153099

Pathogenic/Likely pathogenic

Usher syndrome type 1F
Autosomal recessive nonsyndromic hearing loss 23
Usher syndrome type 1D
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA5506275

rs_761865629

4 SubmittersRCV002789953 RCV003475524 RCV005356346 RCV005099229

NM_206933.4(USH2A):c.7047G>A (p.Trp2349Ter)

SNV
Germline

Chr1:215965390

Pathogenic/Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA344852159

rs_2527554353

3 SubmittersRCV002789978 RCV003466008 RCV004818284

NM_173477.5(USH1G):c.607C>T (p.Gln203Ter)

SNV
Germline

Chr17:74920229

Likely pathogenic

Usher syndrome

Criteria Provided
Single Submitter

CA400964355

rs_727504890

1 SubmittersRCV003123554

NM_022124.6(CDH23):c.9278+2T>A

SNV
Germline

Chr10:71811592

Likely pathogenic

Usher syndrome

Criteria Provided
Single Submitter

CA377135518

rs_2133002381

1 SubmittersRCV003155611

NM_032119.4(ADGRV1):c.2898+2T>C

SNV
Germline

Chr5:90644871

Likely pathogenic

Usher syndrome

Criteria Provided
Single Submitter

CA360391364

rs_2532001058

1 SubmittersRCV003155859

NM_206933.4(USH2A):c.5144A>G (p.Glu1715Gly)

SNV
Germline

Chr1:216084721

Likely pathogenic

Usher syndrome

Criteria Provided
Single Submitter

CA344858766

rs_528113865

1 SubmittersRCV003155887

NM_206933.4(USH2A):c.10724G>T (p.Cys3575Phe)

SNV
Germline

Chr1:215782058

Likely pathogenic

Autosomal dominant nonsyndromic hearing loss 36
Usher syndrome type 2A

No Assertion Criteria Provided

CA344836159

rs_111033265

2 SubmittersRCV003155537 RCV005608936

NM_015404.4(WHRN):c.35C>A (p.Ser12Ter)

SNV
Germline

Chr9:114504767

Pathogenic

Usher syndrome type 2D

Criteria Provided
Single Submitter

CA374614791

rs_760261757

1 SubmittersRCV003225602

NM_022124.6(CDH23):c.1152C>A (p.Ser384Arg)

SNV
Germline

Chr10:71645842

Pathogenic/Likely pathogenic

Usher syndrome
Condition: not provided
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Pituitary adenoma 5, multiple types
Pituitary adenoma 5, multiple types

Criteria Provided
Multiple Submitters
No Conflicts

CA377127412

rs_2493815701

5 SubmittersRCV003226842 RCV003481472 RCV005047469 RCV004572886

NM_022124.6(CDH23):c.1570G>A (p.Glu524Lys)

SNV
Unknown

Chr10:71677511

Likely pathogenic

Usher syndrome

Criteria Provided
Single Submitter

CA5543893

rs_775202656

1 SubmittersRCV003389515

NM_000260.4(MYO7A):c.4018G>C (p.Ala1340Pro)

SNV
Unknown

Chr11:77192144

Likely pathogenic

Usher syndrome

Criteria Provided
Single Submitter

CA381948772

rs_376291076

1 SubmittersRCV003389517

NM_153676.4(USH1C):c.104+2T>C

SNV
Unknown

Chr11:17533253

Likely pathogenic

Usher syndrome

Criteria Provided
Single Submitter

CA379800228

rs_2497240788

1 SubmittersRCV003389519

NM_000260.4(MYO7A):c.2093A>G (p.Gln698Arg)

SNV
Unknown

Chr11:77174913

Likely pathogenic

Usher syndrome

Criteria Provided
Single Submitter

CA381939584

rs_2497079590

1 SubmittersRCV003389521

NM_000260.4(MYO7A):c.3504-1G>A

SNV
Germline

Chr11:77189343

Pathogenic/Likely pathogenic

Usher syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA381946815

rs_1555090171

2 SubmittersRCV003389525 RCV003730477

NM_033056.4(PCDH15):c.5671G>A (p.Glu1891Lys)

SNV
Germline

Chr10:53822055

Likely pathogenic

Usher syndrome

Criteria Provided
Single Submitter

CA376524474

rs_2492343512

1 SubmittersRCV003389530

NM_206933.4(USH2A):c.1636G>T (p.Gly546Ter)

SNV
Unknown

Chr1:216321891

Pathogenic

Usher syndrome

Criteria Provided
Single Submitter

CA344907555

rs_142282413

1 SubmittersRCV003389532

NM_032119.4(ADGRV1):c.2812C>T (p.Gln938Ter)

SNV
Unknown

Chr5:90644783

Pathogenic

Usher syndrome

Criteria Provided
Single Submitter

CA360390846

rs_2531999348

1 SubmittersRCV003389534

NM_001384140.1(PCDH15):c.705+5G>A

SNV
Germline

Chr10:54329591

Likely pathogenic

Usher syndrome

Criteria Provided
Single Submitter

CA2574573789

rs_2547624796

1 SubmittersRCV003389536

NM_033056.4(PCDH15):c.5861C>G (p.Ser1954Ter)

SNV
Unknown

Chr10:53821865

Pathogenic

Usher syndrome

Criteria Provided
Single Submitter

CA376524047

rs_2492334575

1 SubmittersRCV003389537

NM_206933.4(USH2A):c.12599G>A (p.Trp4200Ter)

SNV
Unknown

Chr1:215675312

Pathogenic

Usher syndrome

Criteria Provided
Single Submitter

CA344850490

rs_1200661394

1 SubmittersRCV003389538

NM_206933.4(USH2A):c.7795C>T (p.Gln2599Ter)

SNV
Unknown

Chr1:215888854

Pathogenic

Usher syndrome

Criteria Provided
Single Submitter

CA344839953

rs_2464750216

1 SubmittersRCV003389540

NM_206933.4(USH2A):c.14990G>A (p.Cys4997Tyr)

SNV
Germline

Chr1:215639217

Likely pathogenic

Usher syndrome

Criteria Provided
Single Submitter

CA344826633

rs_2464784840

1 SubmittersRCV003389541

NM_206933.4(USH2A):c.4667T>A (p.Leu1556Ter)

SNV
Germline

Chr1:216097174

Pathogenic

Condition: not provided
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA344861317

rs_2527835876

2 SubmittersRCV003565639 RCV003389542

NM_032119.4(ADGRV1):c.11938C>T (p.Gln3980Ter)

SNV
Unknown

Chr5:90757159

Pathogenic

Usher syndrome

Criteria Provided
Single Submitter

CA360372126

rs_2531653814

1 SubmittersRCV003389544

NM_001384140.1(PCDH15):c.1797C>A (p.Cys599Ter)

SNV
Germline

Chr10:54132995

Pathogenic

Usher syndrome

Criteria Provided
Single Submitter

CA376515315

rs_1022105558

1 SubmittersRCV003389546

NM_206933.4(USH2A):c.956G>T (p.Cys319Phe)

SNV
Unknown

Chr1:216325492

Pathogenic

Usher syndrome

Criteria Provided
Single Submitter

CA344912560

rs_121912599

1 SubmittersRCV003389547

NM_032119.4(ADGRV1):c.9439C>T (p.Arg3147Ter)

SNV
Unknown

Chr5:90716721

Pathogenic

Usher syndrome

Criteria Provided
Single Submitter

CA3340495

rs_769681955

1 SubmittersRCV003389550

NM_000260.4(MYO7A):c.5915G>A (p.Trp1972Ter)

SNV
Germline

Chr11:77208488

Pathogenic/Likely pathogenic

Usher syndrome
Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA381932748

rs_1266443165

2 SubmittersRCV003389552 RCV005012820

NM_032119.4(ADGRV1):c.14329C>T (p.Gln4777Ter)

SNV
Germline

Chr5:90791158

Pathogenic

Usher syndrome

Criteria Provided
Single Submitter

CA360401501

rs_1474343714

1 SubmittersRCV003389554

NM_206933.4(USH2A):c.11639C>A (p.Ser3880Ter)

SNV
Unknown

Chr1:215741447

Pathogenic

Usher syndrome

Criteria Provided
Single Submitter

CA344833551

rs_2465067612

1 SubmittersRCV003389559

NM_206933.4(USH2A):c.784+14389G>T

SNV
Germline

Chr1:216350564

Conflicting classifications of pathogenicity

Retinitis pigmentosa 39
Condition: not provided
Usher syndrome
Usher syndrome type 2

Criteria Provided
Conflicting Classifications

CA37903437

rs_146773511

4 SubmittersRCV003231057 RCV005242382 RCV005240731 RCV005356382

NM_002109.6(HARS1):c.210G>A (p.Met70Ile)

SNV
Germline

Chr5:140683190

Conflicting classifications of pathogenicity

not specified
Usher syndrome type 3B

Criteria Provided
Conflicting Classifications

CA3444165

rs_763952844

2 SubmittersRCV004298992 RCV005102584

NM_000260.4(MYO7A):c.541C>T (p.Gln181Ter)

SNV
Germline

Chr11:77156730

Pathogenic

Condition: not provided
Usher syndrome type 1B

Criteria Provided
Single Submitter

CA381931885

rs_1453718975

2 SubmittersRCV003661042 RCV003320029

NM_001267727.2(ARSG):c.1212+1G>A

SNV
Germline

Chr17:68395194

Pathogenic

Usher syndrome, type 4

No Assertion Criteria Provided

CA400747353

rs_2509555531

1 SubmittersRCV003322646

NM_001267727.2(ARSG):c.275T>C (p.Leu92Pro)

SNV
Germline

Chr17:68343660

Pathogenic

Usher syndrome, type 4

No Assertion Criteria Provided

CA8728149

rs_200685916

1 SubmittersRCV003322647

NM_001267727.2(ARSG):c.588C>A (p.Tyr196Ter)

SNV
Germline

Chr17:68356688

Pathogenic

Usher syndrome, type 4

No Assertion Criteria Provided

CA400743115

rs_1253942262

1 SubmittersRCV003322648

NM_022124.6(CDH23):c.5067+1G>A

SNV
Germline

Chr10:71777902

Likely pathogenic

Usher syndrome

Criteria Provided
Single Submitter

CA377140489

rs_2494339264

1 SubmittersRCV003324223

NM_206933.4(USH2A):c.14423G>A (p.Cys4808Tyr)

SNV
Germline

Chr1:215648687

Conflicting classifications of pathogenicity

Usher syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA344833866

rs_2464816066

3 SubmittersRCV003324682 RCV004690402 RCV003661044

NM_206933.4(USH2A):c.2302T>C (p.Cys768Arg)

SNV
Germline

Chr1:216247092

Conflicting classifications of pathogenicity

Usher syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA37501454

rs_1052375050

2 SubmittersRCV003324683 RCV003777359

NM_032119.4(ADGRV1):c.3941T>A (p.Leu1314Ter)

SNV
Germline

Chr5:90653515

Likely pathogenic

Usher syndrome type 2C

No Assertion Criteria Provided

CA360400020

rs_993498251

1 SubmittersRCV003325930

NM_022124.6(CDH23):c.9121C>G (p.Leu3041Val)

SNV
Germline

Chr10:71811358

Conflicting classifications of pathogenicity

Usher syndrome type 1D
not specified

Criteria Provided
Conflicting Classifications

CA377134612

rs_2494451548

2 SubmittersRCV003389603 RCV005406678

NM_022124.6(CDH23):c.9381-2A>G

SNV
Germline

Chr10:71812478

Pathogenic/Likely pathogenic

Pituitary adenoma 5, multiple types
Condition: not provided
CDH23-related disorder
Pituitary adenoma 5, multiple types
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D

Criteria Provided
Multiple Submitters
No Conflicts

CA377136235

rs_1841971198

4 SubmittersRCV003475574 RCV003778255 RCV004528739 RCV005047570

NM_206933.4(USH2A):c.7037A>G (p.His2346Arg)

SNV
Germline

Chr1:215965400

Conflicting classifications of pathogenicity

Retinitis pigmentosa 39
Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1394964

rs_776390437

3 SubmittersRCV003466502 RCV005012975 RCV005412555

NM_206933.4(USH2A):c.6520G>T (p.Glu2174Ter)

SNV
Germline

Chr1:215999024

Pathogenic/Likely pathogenic

Retinitis pigmentosa 39
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344861448

rs_2527619261

3 SubmittersRCV003464811 RCV003689101 RCV005012976

NM_206933.4(USH2A):c.6657+2T>C

SNV
Germline

Chr1:215998885

Pathogenic/Likely pathogenic

Retinitis pigmentosa 39
Retinal dystrophy
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344860868

rs_2102481774

3 SubmittersRCV003464828 RCV004818350 RCV005012977

NM_206933.4(USH2A):c.9120G>A (p.Trp3040Ter)

SNV
Germline

Chr1:215844432

Pathogenic/Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344838988

rs_1188663543

2 SubmittersRCV003466518 RCV005012978

NM_206933.4(USH2A):c.7594+1G>A

SNV
Germline

Chr1:215900074

Pathogenic/Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA344846871

rs_1558151466

3 SubmittersRCV003464855 RCV005012979 RCV004587499

NM_001384140.1(PCDH15):c.1737C>A (p.Tyr579Ter)

SNV
Germline

Chr10:54153147

Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 23
Usher syndrome type 1F
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 23

Criteria Provided
Single Submitter

CA376519217

rs_1057517251

2 SubmittersRCV003476682 RCV005051310

NM_001384140.1(PCDH15):c.3037G>T (p.Glu1013Ter)

SNV
Germline

Chr10:53959817

Pathogenic/Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 23
Condition: not provided
Usher syndrome type 1F
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 23

Criteria Provided
Multiple Submitters
No Conflicts

CA376521100

rs_2495078256

3 SubmittersRCV003476696 RCV003679223 RCV005047598

NM_174878.3(CLRN1):c.433+1G>T

SNV
Germline

Chr3:150941581

Likely pathogenic

Retinitis pigmentosa 61
Usher syndrome type 3

Criteria Provided
Single Submitter

CA354955247

rs_201205811

2 SubmittersRCV003468488 RCV005616648

NM_022124.6(CDH23):c.2954-2A>G

SNV
Germline

Chr10:71706895

Likely pathogenic

Pituitary adenoma 5, multiple types
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12
Condition: not provided
Pituitary adenoma 5, multiple types

Criteria Provided
Multiple Submitters
No Conflicts

CA377140230

rs_1865810132

3 SubmittersRCV005047622 RCV003779150 RCV003475614

NM_000260.4(MYO7A):c.5481-1G>A

SNV
Germline

Chr11:77205461

Pathogenic

Condition: not provided
Usher syndrome type 1B

Criteria Provided
Single Submitter

CA381952832

rs_1555105118

2 SubmittersRCV003552136 RCV005608983

NM_032119.4(ADGRV1):c.17386C>T (p.Gln5796Ter)

SNV
Germline

Chr5:90853465

Pathogenic

Condition: not provided
Usher syndrome type 2C
Febrile seizures, familial, 4

Criteria Provided
Multiple Submitters
No Conflicts

CA360430245

rs_1766727068

2 SubmittersRCV003555198 RCV005036886

NM_173477.5(USH1G):c.275G>A (p.Trp92Ter)

SNV
Germline

Chr17:74920561

Pathogenic

Condition: not provided
Usher syndrome type 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA400966237

rs_2544431739

2 SubmittersRCV003555661 RCV005030125

NM_206933.4(USH2A):c.9319G>T (p.Glu3107Ter)

SNV
Germline

Chr1:215838043

Pathogenic

Condition: not provided
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA344835096

rs_2464586085

2 SubmittersRCV003554892 RCV005240821

NM_206933.4(USH2A):c.7364G>A (p.Trp2455Ter)

SNV
Germline

Chr1:215900842

Pathogenic

Condition: not provided
Retinitis pigmentosa 39
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344850017

rs_2464785255

3 SubmittersRCV003554894 RCV004574092 RCV005014765

NM_206933.4(USH2A):c.5776G>A (p.Glu1926Lys)

SNV
Germline

Chr1:216073097

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA344853967

rs_1404685640

2 SubmittersRCV003554897 RCV005014766

NM_206933.4(USH2A):c.769G>A (p.Gly257Arg)

SNV
Germline

Chr1:216364968

Pathogenic

Condition: not provided
Usher syndrome type 2A

Criteria Provided
Single Submitter

CA344907575

rs_2102708440

2 SubmittersRCV003554906 RCV005608992

NM_000260.4(MYO7A):c.4510C>T (p.Gln1504Ter)

SNV
Germline

Chr11:77198563

Pathogenic

Retinal dystrophy
Condition: not provided
Usher syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA381950345

rs_1956843263

3 SubmittersRCV004818378 RCV003557643 RCV005407189

NM_206933.4(USH2A):c.1551-1G>A

SNV
Germline

Chr1:216321977

Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA344908310

rs_2037622753

2 SubmittersRCV005013070 RCV003665611

NM_032119.4(ADGRV1):c.461C>A (p.Ser154Ter)

SNV
Germline

Chr5:90622604

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome type 2C

Criteria Provided
Multiple Submitters
No Conflicts

CA360362781

rs_2531757792

2 SubmittersRCV003713794 RCV004783089

NM_001384140.1(PCDH15):c.3270T>G (p.Tyr1090Ter)

SNV
Germline

Chr10:53938918

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome type 1F
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 23

Criteria Provided
Multiple Submitters
No Conflicts

CA376516334

rs_1405076980

2 SubmittersRCV003678834 RCV005047751

NM_206933.4(USH2A):c.8681+1G>C

SNV
Germline

Chr1:215877757

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344828770

rs_876657733

3 SubmittersRCV003687446 RCV004573151 RCV005014861

NM_000260.4(MYO7A):c.5260C>T (p.Gln1754Ter)

SNV
Germline

Chr11:77203151

Pathogenic

Condition: not provided
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA381952290

rs_2497664685

2 SubmittersRCV003687529 RCV005003690

NM_001384140.1(PCDH15):c.1918-1G>A

SNV
Germline

Chr10:54090064

Likely pathogenic

Condition: not provided
Usher syndrome type 1F
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 23

Criteria Provided
Multiple Submitters
No Conflicts

CA376523206

rs_2540012395

2 SubmittersRCV003695460 RCV004796836

NM_022124.6(CDH23):c.7557T>G (p.Tyr2519Ter)

SNV
Germline

Chr10:71802972

Pathogenic/Likely pathogenic

Condition: not provided
Pituitary adenoma 5, multiple types
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12

Criteria Provided
Multiple Submitters
No Conflicts

CA377160598

rs_2132977459

2 SubmittersRCV003693371 RCV005047763

NM_000260.4(MYO7A):c.3503+2T>C

SNV
Germline

Chr11:77184717

Likely pathogenic

Condition: not provided
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2

Criteria Provided
Multiple Submitters
No Conflicts

CA381946320

rs_2497276257

2 SubmittersRCV003697465 RCV005013111

NM_153676.4(USH1C):c.75T>G (p.Tyr25Ter)

SNV
Germline

Chr11:17533284

Pathogenic

Condition: not provided
Usher syndrome type 1C

Criteria Provided
Single Submitter

CA379800646

rs_2497241374

2 SubmittersRCV003702644 RCV005609067

NM_032119.4(ADGRV1):c.4571C>G (p.Ser1524Ter)

SNV
Germline

Chr5:90658097

Pathogenic/Likely pathogenic

Condition: not provided
Febrile seizures, familial, 4
Usher syndrome type 2C

Criteria Provided
Multiple Submitters
No Conflicts

CA121841207

rs_1043304361

2 SubmittersRCV003702854 RCV005036948

NM_000260.4(MYO7A):c.1954T>C (p.Cys652Arg)

SNV
Germline

Chr11:77174774

Pathogenic/Likely pathogenic

Condition: not provided
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA381939133

rs_957394613

2 SubmittersRCV003734633 RCV005240901

NM_032119.4(ADGRV1):c.4510A>T (p.Lys1504Ter)

SNV
Germline

Chr5:90658036

Likely pathogenic

Usher syndrome type 2C

No Assertion Criteria Provided

1 SubmittersRCV004691616

NM_032119.4(ADGRV1):c.11757+2T>C

SNV
Germline

Chr5:90756632

Likely pathogenic

Condition: not provided
Febrile seizures, familial, 4
Usher syndrome type 2C

Criteria Provided
Multiple Submitters
No Conflicts

CA360370451

rs_1755861358

2 SubmittersRCV003855848 RCV005040569

NM_032119.4(ADGRV1):c.13544G>A (p.Gly4515Glu)

SNV
Germline

Chr5:90783948

Conflicting classifications of pathogenicity

Condition: not provided
Febrile seizures, familial, 4
Usher syndrome type 2C

Criteria Provided
Conflicting Classifications

CA3341548

rs_576466976

2 SubmittersRCV003851544 RCV004796856

NM_206933.4(USH2A):c.12447G>A (p.Trp4149Ter)

SNV
Germline

Chr1:215675464

Likely pathogenic

Retinal dystrophy
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344850880

rs_2464900474

2 SubmittersRCV003890527 RCV005006329

NM_206933.4(USH2A):c.1645-2A>C

SNV
Germline

Chr1:216292372

Pathogenic/Likely pathogenic

Retinal dystrophy
Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA344903662

rs_2528257197

2 SubmittersRCV003890608 RCV005015083

NM_015404.4(WHRN):c.2140C>T (p.Gln714Ter)

SNV
Germline

Chr9:114406451

Likely pathogenic

Usher syndrome type 2D

Criteria Provided
Single Submitter

CA374620217

rs_2491523011

1 SubmittersRCV003984994

NM_000260.4(MYO7A):c.845C>A (p.Ala282Asp)

SNV
Germline

Chr11:77157388

Likely pathogenic

Usher syndrome type 1

Criteria Provided
Single Submitter

1 SubmittersRCV004703365

NM_032119.4(ADGRV1):c.10570C>T (p.Gln3524Ter)

SNV
Germline

Chr5:90745066

Pathogenic

Usher syndrome

Criteria Provided
Single Submitter

CA360407497

rs_766464017

1 SubmittersRCV003988451

NM_000260.4(MYO7A):c.1217T>A (p.Leu406Gln)

SNV
Germline

Chr11:77160989

Likely pathogenic

Usher syndrome type 1

Criteria Provided
Single Submitter

CA381934846

rs_2496843802

1 SubmittersRCV003990486

NM_206933.4(USH2A):c.14134-1G>T

SNV
Germline

Chr1:215650802

Pathogenic

Usher syndrome type 2A

Criteria Provided
Single Submitter

CA344836069

rs_2464821346

1 SubmittersRCV003991322

NM_206933.4(USH2A):c.1180C>A (p.Pro394Thr)

SNV
Germline

Chr1:216324316

Likely pathogenic

Usher syndrome type 2A

Criteria Provided
Single Submitter

CA344912018

rs_2037684727

1 SubmittersRCV004555418

NM_032119.4(ADGRV1):c.7339C>T (p.Gln2447Ter)

SNV
Germline

Chr5:90694095

Pathogenic

Usher syndrome type 2C

Criteria Provided
Single Submitter

rs_1413833807

1 SubmittersRCV004557232

NM_206933.4(USH2A):c.5385T>A (p.Tyr1795Ter)

SNV
Germline

Chr1:216078276

Likely pathogenic

Usher syndrome type 2A

Criteria Provided
Single Submitter

rs_2102554465

1 SubmittersRCV004576170

NM_022124.6(CDH23):c.7661-1G>C

SNV
Germline

Chr10:71803208

Likely pathogenic

Pituitary adenoma 5, multiple types
Usher syndrome type 1D

Criteria Provided
Multiple Submitters
No Conflicts

rs_2494418097

2 SubmittersRCV004575525 RCV005358114

NM_206933.4(USH2A):c.6082T>G (p.Tyr2028Asp)

SNV
Germline

Chr1:216048615

Conflicting classifications of pathogenicity

Retinal dystrophy
Usher syndrome type 2A

No Assertion Criteria Provided

2 SubmittersRCV004818634 RCV005610692

NM_000260.4(MYO7A):c.1955G>A (p.Cys652Tyr)

SNV
Germline

Chr11:77174775

Conflicting classifications of pathogenicity

Retinal dystrophy
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Usher syndrome type 1
not specified

Criteria Provided
Conflicting Classifications

rs_1954474030

4 SubmittersRCV004818732 RCV005003772 RCV005101965 RCV004587651

NM_206933.4(USH2A):c.13564C>T (p.Leu4522Phe)

SNV
Germline

Chr1:215674347

Likely pathogenic

Usher syndrome type 2A

Criteria Provided
Single Submitter

rs_1657923690

1 SubmittersRCV004585140

NM_001267727.2(ARSG):c.407-2A>C

SNV
Germline

Chr17:68347123

Likely pathogenic

Usher syndrome, type 4

Criteria Provided
Single Submitter

rs_2510614539

1 SubmittersRCV004586417

NM_032119.4(ADGRV1):c.8731-2A>G

SNV
Germline

Chr5:90708814

Likely pathogenic

Usher syndrome type 2C

Criteria Provided
Single Submitter

rs_2531119855

1 SubmittersRCV004594807

NM_206933.4(USH2A):c.4356T>A (p.Cys1452Ter)

SNV
Germline

Chr1:216190263

Pathogenic

Usher syndrome type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV004596045

NM_206933.4(USH2A):c.11520T>G (p.Tyr3840Ter)

SNV
Germline

Chr1:215743205

Pathogenic

Usher syndrome type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV004698406

NM_206933.4(USH2A):c.14969-1G>C

SNV
Germline

Chr1:215639239

Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39

No Assertion Criteria Provided

1 SubmittersRCV004776480

NM_206933.4(USH2A):c.14343+2T>G

SNV
Germline

Chr1:215650590

Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39

No Assertion Criteria Provided

1 SubmittersRCV004776481

NM_206933.4(USH2A):c.1972-1G>T

SNV
Germline

Chr1:216251099

Likely pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39

No Assertion Criteria Provided

1 SubmittersRCV004776482

NM_032119.4(ADGRV1):c.8801C>A (p.Ser2934Ter)

SNV
Germline

Chr5:90708886

Pathogenic

Usher syndrome type 2C
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004788573 RCV005435451

NM_000260.4(MYO7A):c.6479G>A (p.Trp2160Ter)

SNV
Germline

Chr11:77213900

Pathogenic/Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004797153 RCV005052912

NM_206933.4(USH2A):c.1144-1G>A

SNV
Germline

Chr1:216324353

Pathogenic

Usher syndrome type 2A
Retinitis pigmentosa 39

Criteria Provided
Single Submitter

1 SubmittersRCV004797271

NM_000260.4(MYO7A):c.5856+1G>A

SNV
Germline

Chr11:77207403

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004795675

NM_000260.4(MYO7A):c.4485G>A (p.Trp1495Ter)

SNV
Germline

Chr11:77198538

Pathogenic

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11

Criteria Provided
Single Submitter

1 SubmittersRCV004795749

NM_000260.4(MYO7A):c.4168G>T (p.Glu1390Ter)

SNV
Germline

Chr11:77194369

Pathogenic

Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11

Criteria Provided
Single Submitter

1 SubmittersRCV004795769

NM_000260.4(MYO7A):c.479C>G (p.Ser160Cys)

SNV
Germline

Chr11:77156668

Likely pathogenic

Usher syndrome type 1

Criteria Provided
Single Submitter

1 SubmittersRCV004821044

NM_206933.4(USH2A):c.10663G>T (p.Glu3555Ter)

SNV
Germline

Chr1:215782119

Pathogenic

Usher syndrome type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV004823546

NM_206933.4(USH2A):c.4988-1G>C

SNV
Germline

Chr1:216084878

Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV005014136

NM_206933.4(USH2A):c.4987G>T (p.Glu1663Ter)

SNV
Germline

Chr1:216086719

Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV005020008

NM_206933.4(USH2A):c.3518C>A (p.Ser1173Ter)

SNV
Germline

Chr1:216199920

Pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV005020080

NM_206933.4(USH2A):c.2994-1G>C

SNV
Germline

Chr1:216217551

Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV005007323

NM_000260.4(MYO7A):c.285+1G>T

SNV
Germline

Chr11:77147951

Pathogenic/Likely pathogenic

Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005004682 RCV005061839

NM_000260.4(MYO7A):c.947G>A (p.Trp316Ter)

SNV
Germline

Chr11:77158374

Likely pathogenic

Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11

Criteria Provided
Single Submitter

1 SubmittersRCV005004683

NM_000260.4(MYO7A):c.1080+1G>C

SNV
Germline

Chr11:77159524

Likely pathogenic

Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11

Criteria Provided
Single Submitter

1 SubmittersRCV005006692

NM_000260.4(MYO7A):c.2094+2T>C

SNV
Germline

Chr11:77174916

Likely pathogenic

Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11

Criteria Provided
Single Submitter

1 SubmittersRCV005004686

NM_000260.4(MYO7A):c.3286-2A>C

SNV
Germline

Chr11:77183066

Likely pathogenic

Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11

Criteria Provided
Single Submitter

1 SubmittersRCV005004688

NM_206933.4(USH2A):c.10586-1G>A

SNV
Germline

Chr1:215782197

Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV005019808

NM_206933.4(USH2A):c.10182+2T>G

SNV
Germline

Chr1:215790057

Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV005013924

NM_206933.4(USH2A):c.9055+2T>A

SNV
Germline

Chr1:215845822

Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV005019848

NM_206933.4(USH2A):c.8681G>T (p.Arg2894Met)

SNV
Germline

Chr1:215877758

Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV005019867

NM_206933.4(USH2A):c.15216T>A (p.Tyr5072Ter)

SNV
Germline

Chr1:215634540

Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV005013808

NM_206933.4(USH2A):c.14969-1G>T

SNV
Germline

Chr1:215639239

Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV005013819

NM_206933.4(USH2A):c.13598C>A (p.Ser4533Ter)

SNV
Germline

Chr1:215674313

Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV005019700

NM_206933.4(USH2A):c.1841-1G>T

SNV
Germline

Chr1:216289411

Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV005007378

NM_206933.4(USH2A):c.1090C>T (p.Gln364Ter)

SNV
Germline

Chr1:216325358

Likely pathogenic

Retinitis pigmentosa 39
Usher syndrome type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV005022056

NM_173477.5(USH1G):c.445G>T (p.Glu149Ter)

SNV
Germline

Chr17:74920391

Likely pathogenic

Usher syndrome type 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005022620

NM_173477.5(USH1G):c.370C>T (p.Gln124Ter)

SNV
Germline

Chr17:74920466

Likely pathogenic

Usher syndrome type 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005022621

NM_032119.4(ADGRV1):c.559-1G>A

SNV
Germline

Chr5:90625129

Likely pathogenic

Usher syndrome type 2C
Febrile seizures, familial, 4

Criteria Provided
Single Submitter

1 SubmittersRCV005037705

NM_032119.4(ADGRV1):c.2017-1G>A

SNV
Germline

Chr5:90637724

Likely pathogenic

Usher syndrome type 2C
Febrile seizures, familial, 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005037706 RCV005105254

NM_032119.4(ADGRV1):c.2898G>T (p.Glu966Asp)

SNV
Germline

Chr5:90644869

Likely pathogenic

Usher syndrome type 2C
Febrile seizures, familial, 4

Criteria Provided
Single Submitter

1 SubmittersRCV005037707

NM_032119.4(ADGRV1):c.4753-1G>T

SNV
Germline

Chr5:90672545

Likely pathogenic

Usher syndrome type 2C
Febrile seizures, familial, 4

Criteria Provided
Single Submitter

1 SubmittersRCV005045474

NM_032119.4(ADGRV1):c.5314-2A>G

SNV
Germline

Chr5:90676078

Likely pathogenic

Usher syndrome type 2C
Febrile seizures, familial, 4

Criteria Provided
Single Submitter

1 SubmittersRCV005045476

NM_032119.4(ADGRV1):c.10172G>A (p.Trp3391Ter)

SNV
Germline

Chr5:90728679

Likely pathogenic

Usher syndrome type 2C
Febrile seizures, familial, 4

Criteria Provided
Single Submitter

1 SubmittersRCV005037713

NM_032119.4(ADGRV1):c.17576G>A (p.Trp5859Ter)

SNV
Germline

Chr5:90854183

Likely pathogenic

Usher syndrome type 2C
Febrile seizures, familial, 4

Criteria Provided
Single Submitter

1 SubmittersRCV005045478

NM_032119.4(ADGRV1):c.17756-1G>A

SNV
Germline

Chr5:90863756

Likely pathogenic

Usher syndrome type 2C
Febrile seizures, familial, 4

Criteria Provided
Single Submitter

1 SubmittersRCV005037718

NM_001384140.1(PCDH15):c.2220+2T>C

SNV
Germline

Chr10:54066755

Likely pathogenic

Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 23
Usher syndrome type 1F
Usher syndrome type 1F

Criteria Provided
Single Submitter

2 SubmittersRCV005041293 RCV005610771

NM_001384140.1(PCDH15):c.880G>T (p.Glu294Ter)

SNV
Germline

Chr10:54236928

Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 23
Usher syndrome type 1D
Usher syndrome type 1F

Criteria Provided
Single Submitter

1 SubmittersRCV005041338

NM_022124.6(CDH23):c.8191C>T (p.Gln2731Ter)

SNV
Germline

Chr10:71807289

Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 12
Pituitary adenoma 5, multiple types
Usher syndrome type 1D

Criteria Provided
Single Submitter

1 SubmittersRCV005046304

NM_022124.6(CDH23):c.9511-2A>C

SNV
Germline

Chr10:71812766

Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 12
Pituitary adenoma 5, multiple types
Usher syndrome type 1D

Criteria Provided
Single Submitter

1 SubmittersRCV005049083

NM_022124.6(CDH23):c.9634-1G>A

SNV
Germline

Chr10:71813243

Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 12
Pituitary adenoma 5, multiple types
Usher syndrome type 1D

Criteria Provided
Single Submitter

1 SubmittersRCV005046385

NM_153676.4(USH1C):c.2371G>T (p.Glu791Ter)

SNV
Germline

Chr11:17501060

Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 18A
Usher syndrome type 1C

Criteria Provided
Single Submitter

1 SubmittersRCV005046633

NM_005709.4(USH1C):c.1216C>T (p.Gln406Ter)

SNV
Germline

Chr11:17517469

Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 18A
Usher syndrome type 1C

Criteria Provided
Single Submitter

1 SubmittersRCV005046636

NM_153676.4(USH1C):c.1144G>T (p.Glu382Ter)

SNV
Germline

Chr11:17520936

Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 18A
Usher syndrome type 1C

Criteria Provided
Single Submitter

1 SubmittersRCV005046637

NM_174878.3(CLRN1):c.569G>A (p.Trp190Ter)

SNV
Germline

Chr3:150928066

Likely pathogenic

Usher syndrome type 3A
Retinitis pigmentosa 61

Criteria Provided
Single Submitter

1 SubmittersRCV005035046

NM_022124.6(CDH23):c.289-1G>C

SNV
Germline

Chr10:71510953

Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 12
Pituitary adenoma 5, multiple types
Usher syndrome type 1D

Criteria Provided
Single Submitter

1 SubmittersRCV005046032

NM_022124.6(CDH23):c.337-2A>G

SNV
Germline

Chr10:71511118

Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 12
Pituitary adenoma 5, multiple types
Usher syndrome type 1D

Criteria Provided
Single Submitter

1 SubmittersRCV005046037

NM_022124.6(CDH23):c.833-1G>A

SNV
Germline

Chr10:71615503

Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 12
Pituitary adenoma 5, multiple types
Usher syndrome type 1D

Criteria Provided
Single Submitter

1 SubmittersRCV005046046

NM_022124.6(CDH23):c.918C>G (p.Tyr306Ter)

SNV
Germline

Chr10:71615589

Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 12
Pituitary adenoma 5, multiple types
Usher syndrome type 1D

Criteria Provided
Single Submitter

1 SubmittersRCV005048985

NM_022124.6(CDH23):c.1395C>A (p.Tyr465Ter)

SNV
Germline

Chr10:71646563

Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 12
Pituitary adenoma 5, multiple types
Usher syndrome type 1D

Criteria Provided
Single Submitter

1 SubmittersRCV005046057

NM_022124.6(CDH23):c.2587+1G>T

SNV
Germline

Chr10:71702212

Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 12
Pituitary adenoma 5, multiple types
Usher syndrome type 1D

Criteria Provided
Single Submitter

1 SubmittersRCV005046079

NM_022124.6(CDH23):c.2730C>G (p.Tyr910Ter)

SNV
Germline

Chr10:71702691

Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 12
Pituitary adenoma 5, multiple types
Usher syndrome type 1D

Criteria Provided
Single Submitter

1 SubmittersRCV005046090

NM_022124.6(CDH23):c.4105-1G>A

SNV
Germline

Chr10:71734239

Likely pathogenic

Pituitary adenoma 5, multiple types
Usher syndrome type 1D
Autosomal recessive nonsyndromic hearing loss 12

Criteria Provided
Single Submitter

1 SubmittersRCV005049014

NM_022124.6(CDH23):c.5434G>T (p.Glu1812Ter)

SNV
Germline

Chr10:71784352

Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 12
Pituitary adenoma 5, multiple types
Usher syndrome type 1D

Criteria Provided
Single Submitter

1 SubmittersRCV005046165

NM_022124.6(CDH23):c.5985C>A (p.Tyr1995Ter)

SNV
Germline

Chr10:71790349

Pathogenic

Autosomal recessive nonsyndromic hearing loss 12
Pituitary adenoma 5, multiple types
Usher syndrome type 1D

Criteria Provided
Single Submitter

1 SubmittersRCV005046177

NM_022124.6(CDH23):c.6254-2A>C

SNV
Germline

Chr10:71793180

Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 12
Pituitary adenoma 5, multiple types
Usher syndrome type 1D

Criteria Provided
Single Submitter

1 SubmittersRCV005049035

NM_022124.6(CDH23):c.6973A>T (p.Lys2325Ter)

SNV
Germline

Chr10:71798497

Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 12
Pituitary adenoma 5, multiple types
Usher syndrome type 1D

Criteria Provided
Single Submitter

1 SubmittersRCV005046239

NM_022124.6(CDH23):c.7033C>T (p.Gln2345Ter)

SNV
Germline

Chr10:71798557

Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 12
Pituitary adenoma 5, multiple types
Usher syndrome type 1D

Criteria Provided
Single Submitter

1 SubmittersRCV005046245

NM_015404.4(WHRN):c.2418+1G>A

SNV
Germline

Chr9:114403895

Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 31
Usher syndrome type 2D

Criteria Provided
Single Submitter

1 SubmittersRCV005048886

NM_015404.4(WHRN):c.2236+2T>G

SNV
Germline

Chr9:114406353

Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 31
Usher syndrome type 2D

Criteria Provided
Single Submitter

1 SubmittersRCV005043752

NM_173477.5(USH1G):c.495C>G (p.Tyr165Ter)

SNV
Germline

Chr17:74920341

Pathogenic

Usher syndrome type 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005052946

NM_173477.5(USH1G):c.801G>A (p.Trp267Ter)

SNV
Germline

Chr17:74920035

Pathogenic

Usher syndrome type 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005052948

NM_206933.4(USH2A):c.12384C>A (p.Tyr4128Ter)

SNV
Germline

Chr1:215675527

Pathogenic

Usher syndrome type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV005052950

NM_206933.4(USH2A):c.14878C>T (p.Gln4960Ter)

SNV
Germline

Chr1:215640648

Pathogenic

Usher syndrome type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV005052954

NM_206933.4(USH2A):c.15385C>T (p.Gln5129Ter)

SNV
Germline

Chr1:215628948

Likely pathogenic

Usher syndrome type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV005052955

NM_206933.4(USH2A):c.4213C>T (p.Gln1405Ter)

SNV
Germline

Chr1:216196591

Pathogenic

Usher syndrome type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV005052956

NM_206933.4(USH2A):c.8224-6T>C

SNV
Germline

Chr1:215879104

Pathogenic

Usher syndrome type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV005052958

NM_206933.4(USH2A):c.9921T>A (p.Cys3307Ter)

SNV
Germline

Chr1:215798944

Pathogenic

Usher syndrome type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV005052959

NM_174878.3(CLRN1):c.118T>C (p.Cys40Arg)

SNV
Germline

Chr3:150972591

Likely pathogenic

Usher syndrome type 3A

Criteria Provided
Single Submitter

1 SubmittersRCV005052965

NM_174878.3(CLRN1):c.293A>T (p.His98Leu)

SNV
Germline

Chr3:150941722

Likely pathogenic

Usher syndrome type 3A

Criteria Provided
Single Submitter

1 SubmittersRCV005052967

NM_032119.4(ADGRV1):c.13852G>T (p.Glu4618Ter)

SNV
Germline

Chr5:90788269

Likely pathogenic

Usher syndrome type 2C

Criteria Provided
Single Submitter

1 SubmittersRCV005053269

NM_032119.4(ADGRV1):c.16336T>C (p.Cys5446Arg)

SNV
Germline

Chr5:90823564

Likely pathogenic

Usher syndrome type 2C

Criteria Provided
Single Submitter

1 SubmittersRCV005053362

NM_000260.4(MYO7A):c.3504-2A>C

SNV
Germline

Chr11:77189342

Pathogenic

Usher syndrome type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005053392

NM_000260.4(MYO7A):c.5044-1G>A

SNV
Germline

Chr11:77202299

Pathogenic

Usher syndrome type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005053404

NM_032119.4(ADGRV1):c.16368+2T>C

SNV
Germline

Chr5:90823598

Likely pathogenic

Usher syndrome type 2C

Criteria Provided
Single Submitter

1 SubmittersRCV005053465

NM_032119.4(ADGRV1):c.2367+2T>A

SNV
Germline

Chr5:90642764

Likely pathogenic

Usher syndrome type 2C

Criteria Provided
Single Submitter

1 SubmittersRCV005053566

NM_022124.6(CDH23):c.8044G>A (p.Glu2682Lys)

SNV
Germline

Chr10:71805977

Pathogenic

Usher syndrome type 1D

Criteria Provided
Single Submitter

1 SubmittersRCV005053578

NM_206933.4(USH2A):c.12505A>C (p.Thr4169Pro)

SNV
Germline

Chr1:215675406

Pathogenic

Usher syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005088350

NM_206933.4(USH2A):c.8654G>A (p.Trp2885Ter)

SNV
Germline

Chr1:215877785

Pathogenic

Condition: not provided
Usher syndrome type 2A

Criteria Provided
Single Submitter

2 SubmittersRCV005134568 RCV005610791

NM_000260.4(MYO7A):c.2028C>G (p.Tyr676Ter)

SNV
Germline

Chr11:77174848

Pathogenic

Usher syndrome type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005205663

NM_032119.4(ADGRV1):c.17187C>A (p.Cys5729Ter)

SNV
Germline

Chr5:90848804

Likely pathogenic

Usher syndrome type 2C
Febrile seizures, familial, 4

Criteria Provided
Single Submitter

1 SubmittersRCV005229732

NM_206933.4(USH2A):c.1675A>C (p.Lys559Gln)

SNV
Germline

Chr1:216292340

Likely pathogenic

Usher syndrome
Usher syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005236850 RCV005233176

NM_032119.4(ADGRV1):c.16357A>T (p.Lys5453Ter)

SNV
Germline

Chr5:90823585

Likely pathogenic

Usher syndrome type 2C

Criteria Provided
Single Submitter

1 SubmittersRCV005235876

NM_032119.4(ADGRV1):c.7134-2A>T

SNV
Germline

Chr5:90693888

Likely pathogenic

Usher syndrome type 2C

Criteria Provided
Single Submitter

1 SubmittersRCV005235877

NM_206933.4(USH2A):c.14133G>T (p.Gln4711His)

SNV
Germline

Chr1:215670972

Pathogenic

Usher syndrome type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV005235883

NM_206933.4(USH2A):c.5298+1G>C

SNV
Germline

Chr1:216083455

Pathogenic

Usher syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005237000

NM_206933.4(USH2A):c.9801C>G (p.Cys3267Trp)

SNV
Germline

Chr1:215799064

Likely pathogenic

Usher syndrome
Usher syndrome type 2A

Criteria Provided
Single Submitter

2 SubmittersRCV005237091 RCV005618472

NM_032119.4(ADGRV1):c.8845C>T (p.Gln2949Ter)

SNV
Germline

Chr5:90711001

Likely pathogenic

Usher syndrome type 2C

Criteria Provided
Single Submitter

1 SubmittersRCV005252628

NM_032119.4(ADGRV1):c.16368+1G>A

SNV
Germline

Chr5:90823597

Likely pathogenic

Usher syndrome type 2C

Criteria Provided
Single Submitter

1 SubmittersRCV005253266

NM_206933.4(USH2A):c.14489C>A (p.Ser4830Ter)

SNV
Germline

Chr1:215648621

Likely pathogenic

Usher syndrome type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV005253391

NM_032119.4(ADGRV1):c.1378C>T (p.Gln460Ter)

SNV
Germline

Chr5:90628701

Likely pathogenic

Usher syndrome type 2C

Criteria Provided
Single Submitter

1 SubmittersRCV005253588

NM_000260.4(MYO7A):c.1200G>T (p.Lys400Asn)

SNV
Germline

Chr11:77160282

Likely pathogenic

Usher syndrome type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005254244

NM_000260.4(MYO7A):c.3863C>A (p.Ala1288Asp)

SNV
Germline

Chr11:77190809

Likely pathogenic

Usher syndrome type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005431000

NM_001267727.2(ARSG):c.821G>A (p.Trp274Ter)

SNV
Germline

Chr17:68368664

Likely pathogenic

Usher syndrome, type 4

Criteria Provided
Single Submitter

1 SubmittersRCV005362274

NM_000260.4(MYO7A):c.4397G>A (p.Trp1466Ter)

SNV
Germline

Chr11:77197554

Pathogenic

Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2

Criteria Provided
Single Submitter

1 SubmittersRCV005399998

NM_032119.4(ADGRV1):c.3438C>G (p.Tyr1146Ter)

SNV
Germline

Chr5:90652367

Pathogenic

Usher syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005409281

NM_206933.4(USH2A):c.7134C>A (p.Tyr2378Ter)

SNV
Germline

Chr1:215934782

Pathogenic

Usher syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005418711

NM_000260.4(MYO7A):c.3987C>A (p.Tyr1329Ter)

SNV
Germline

Chr11:77192113

Likely pathogenic

Usher syndrome type 1B

No Assertion Criteria Provided

1 SubmittersRCV005607177

NM_000260.4(MYO7A):c.493A>G (p.Thr165Ala)

SNV
Germline

Chr11:77156682

Likely pathogenic

Usher syndrome type 1B

No Assertion Criteria Provided

1 SubmittersRCV005607191

NM_000260.4(MYO7A):c.2187+1G>C

SNV
Germline

Chr11:77175465

Likely pathogenic

Usher syndrome type 1B

No Assertion Criteria Provided

1 SubmittersRCV005607241

NM_206933.4(USH2A):c.11683G>T (p.Gly3895Ter)

SNV
Germline

Chr1:215741403

Likely pathogenic

Usher syndrome type 2A

No Assertion Criteria Provided

1 SubmittersRCV005606366

NM_206933.4(USH2A):c.2993G>A (p.Arg998Lys)

SNV
Germline

Chr1:216231953

Likely pathogenic

Usher syndrome type 2A

No Assertion Criteria Provided

1 SubmittersRCV005606385

NM_206933.4(USH2A):c.9571-2A>C

SNV
Germline

Chr1:215813906

Pathogenic

Usher syndrome type 2A

No Assertion Criteria Provided

1 SubmittersRCV005608144

NM_206933.4(USH2A):c.4461G>A (p.Trp1487Ter)

SNV
Germline

Chr1:216175418

Likely pathogenic

Usher syndrome type 2A

No Assertion Criteria Provided

1 SubmittersRCV005608153

NM_206933.4(USH2A):c.14439T>A (p.Cys4813Ter)

SNV
Germline

Chr1:215648671

Likely pathogenic

Usher syndrome type 2A

No Assertion Criteria Provided

1 SubmittersRCV005608163

NM_206933.4(USH2A):c.2993+2T>A

SNV
Germline

Chr1:216231951

Likely pathogenic

Usher syndrome type 2A

No Assertion Criteria Provided

1 SubmittersRCV005608168

NM_206933.4(USH2A):c.9739+1G>T

SNV
Germline

Chr1:215813735

Likely pathogenic

Usher syndrome type 2A

No Assertion Criteria Provided

1 SubmittersRCV005608179

NM_206933.4(USH2A):c.13921G>T (p.Glu4641Ter)

SNV
Germline

Chr1:215671184

Likely pathogenic

Usher syndrome type 2A

No Assertion Criteria Provided

1 SubmittersRCV005608180

NM_206933.4(USH2A):c.3988G>T (p.Glu1330Ter)

SNV
Germline

Chr1:216198408

Likely pathogenic

Usher syndrome type 2A

No Assertion Criteria Provided

1 SubmittersRCV005613035

NM_206933.4(USH2A):c.13270T>C (p.Cys4424Arg)

SNV
Germline

Chr1:215674641

Likely pathogenic

Usher syndrome type 2A

No Assertion Criteria Provided

1 SubmittersRCV005613041

NM_153676.4(USH1C):c.36+1G>C

SNV
Germline

Chr11:17544271

Pathogenic

Usher syndrome type 1C

No Assertion Criteria Provided

1 SubmittersRCV005606177

NM_206933.4(USH2A):c.9372-2A>G

SNV
Germline

Chr1:215817197

Likely pathogenic

Usher syndrome type 2A

No Assertion Criteria Provided

1 SubmittersRCV005606200

NM_206933.4(USH2A):c.14133+2T>C

SNV
Germline

Chr1:215670970

Likely pathogenic

Usher syndrome type 2A

No Assertion Criteria Provided

1 SubmittersRCV005606217

NM_206933.4(USH2A):c.14134-2A>T

SNV
Germline

Chr1:215650803

Likely pathogenic

Usher syndrome type 2A

No Assertion Criteria Provided

1 SubmittersRCV005606224

NM_206933.4(USH2A):c.10027G>T (p.Glu3343Ter)

SNV
Germline

Chr1:215790214

Likely pathogenic

Usher syndrome type 2A

No Assertion Criteria Provided

1 SubmittersRCV005606293

NM_022124.6(CDH23):c.8488C>T (p.Gln2830Ter)

SNV
Germline

Chr10:71807695

Likely pathogenic

Usher syndrome type 1

No Assertion Criteria Provided

1 SubmittersRCV005612194

NM_022124.6(CDH23):c.4357C>T (p.Gln1453Ter)

SNV
Germline

Chr10:71738645

Likely pathogenic

Usher syndrome type 1

No Assertion Criteria Provided

1 SubmittersRCV005612247

NM_022124.6(CDH23):c.1987-1G>C

SNV
Germline

Chr10:71687646

Likely pathogenic

Usher syndrome type 1

No Assertion Criteria Provided

1 SubmittersRCV005612286

NM_022124.6(CDH23):c.7918A>T (p.Lys2640Ter)

SNV
Germline

Chr10:71805851

Likely pathogenic

Usher syndrome type 1

No Assertion Criteria Provided

1 SubmittersRCV005612343

NM_032119.4(ADGRV1):c.4458T>G (p.Tyr1486Ter)

SNV
Germline

Chr5:90657984

Pathogenic

Usher syndrome type 2C

No Assertion Criteria Provided

1 SubmittersRCV005621361

NM_000260.4(MYO7A):c.4361T>G (p.Val1454Gly)

SNV
Germline

Chr11:77197518

Likely pathogenic

Usher syndrome type 1

No Assertion Criteria Provided

1 SubmittersRCV005621362

NM_022124.6(CDH23):c.2349C>A (p.Tyr783Ter)

SNV
Germline

Chr10:71695477

Pathogenic

Usher syndrome type 1D

No Assertion Criteria Provided

1 SubmittersRCV005621363