Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_032119.4(ADGRV1):c.8495C>A (p.Ser2832Ter)	SNV Germline	Chr5:90705508	Pathogenic	Febrile seizures, familial, 4	No Assertion Criteria Provided	CA215127	rs_121909761	1 SubmittersRCV000007199
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_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.11253C>G (p.Tyr3751Ter)	SNV Germline	Chr5:90753705	Pathogenic	Rare genetic deafness	Criteria Provided Single Submitter	CA261831	rs_376689763	1 SubmittersRCV000039510
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.1505C>T (p.Ala502Val)	SNV Germline	Chr5:90628828	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA138040	rs_367826825	3 SubmittersRCV000039532 RCV002513547
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.15786C>T (p.Phe5262=)	SNV Germline	Chr5:90811046	Conflicting classifications of pathogenicity	not specified Condition: not provided ADGRV1-related disorder	Criteria Provided Conflicting Classifications	CA138049	rs_369083434	5 SubmittersRCV000039537 RCV000725984 RCV004549460
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.6242C>G (p.Ser2081Cys)	SNV Germline	Chr5:90684163	Conflicting classifications of pathogenicity	not specified Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA138169	rs_201210744	4 SubmittersRCV000039605 RCV001366393 RCV005318318
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.6443C>T (p.Ala2148Val)	SNV Germline	Chr5:90685948	Conflicting classifications of pathogenicity	not specified Condition: not provided ADGRV1-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA138177	rs_375921325	6 SubmittersRCV000039609 RCV000724387 RCV004737180 RCV002513551
NM_032119.4(ADGRV1):c.690A>C (p.Glu230Asp)	SNV Germline	Chr5:90627228	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA138185	rs_397517434	3 SubmittersRCV003688825
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.7150C>T (p.Arg2384Trp)	SNV Germline	Chr5:90693906	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA138194	rs_377475657	4 SubmittersRCV000039618 RCV000756976
NM_032119.4(ADGRV1):c.7406G>A (p.Trp2469Ter)	SNV Germline	Chr5:90694162	Pathogenic	Rare genetic deafness	Criteria Provided Single Submitter	CA261839	rs_397517436	1 SubmittersRCV000039627
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.7569A>G (p.Thr2523=)	SNV Germline	Chr5:90694325	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA138216	rs_373352597	3 SubmittersRCV000039631 RCV000726325
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.8396C>T (p.Pro2799Leu)	SNV Germline	Chr5:90705409	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA138240	rs_200179979	4 SubmittersRCV000039644 RCV001362654
NM_032119.4(ADGRV1):c.854G>A (p.Arg285His)	SNV Germline	Chr5:90627392	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA138246	rs_397517439	2 SubmittersRCV000039647 RCV001852826
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.8591C>T (p.Thr2864Met)	SNV Germline	Chr5:90706255	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA138251	rs_397517440	2 SubmittersRCV000039650 RCV001325165
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.8938T>C (p.Leu2980=)	SNV Germline	Chr5:90711218	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA138261	rs_397517442	3 SubmittersRCV000039657 RCV000726062
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.9466A>G (p.Ile3156Val)	SNV Germline	Chr5:90720066	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA138269	rs_372484022	4 SubmittersRCV000039661 RCV001358284
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_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_032119.4(ADGRV1):c.15959A>T (p.Asp5320Val)	SNV Germline	Chr5:90811219	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA223819	rs_398124425	2 SubmittersRCV000082289
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_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_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_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_032119.4(ADGRV1):c.11338C>T (p.Arg3780Cys)	SNV Germline	Chr5:90753790	Conflicting classifications of pathogenicity	Febrile seizures, familial, 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA233296	rs_201742794	2 SubmittersRCV000146067 RCV001213321
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.10066A>G (p.Ile3356Val)	SNV Germline	Chr5:90725561	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA176212	rs_727503078	3 SubmittersRCV000150770 RCV000732465
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.12207C>T (p.Thr4069=)	SNV Germline	Chr5:90763391	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA176225	rs_202066007	5 SubmittersRCV000150778 RCV000710426
NM_032119.4(ADGRV1):c.12424C>T (p.Arg4142Trp)	SNV Germline	Chr5:90776473	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA176229	rs_534226753	2 SubmittersRCV000150780 RCV001304024
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.12721G>A (p.Ala4241Thr)	SNV Germline	Chr5:90778481	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA183738	rs_727504627	3 SubmittersRCV000155887 RCV001339539
NM_032119.4(ADGRV1):c.13714A>T (p.Ile4572Phe)	SNV Germline	Chr5:90788131	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA176237	rs_727503082	2 SubmittersRCV000150784 RCV001850051
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.16285G>A (p.Glu5429Lys)	SNV Germline	Chr5:90823513	Conflicting classifications of pathogenicity	not specified Condition: not provided Inborn genetic diseases ADGRV1-related disorder	Criteria Provided Conflicting Classifications	CA176242	rs_183851734	6 SubmittersRCV000150787 RCV000724045 RCV002516028 RCV004551309
NM_032119.4(ADGRV1):c.17342A>G (p.Gln5781Arg)	SNV Germline	Chr5:90853421	Conflicting classifications of pathogenicity	not specified Condition: not provided Inborn genetic diseases ADGRV1-related disorder	Criteria Provided Conflicting Classifications	CA176254	rs_369717492	6 SubmittersRCV000150793 RCV000724420 RCV003298156 RCV004737232
NM_032119.4(ADGRV1):c.17528A>G (p.Tyr5843Cys)	SNV Germline	Chr5:90854135	Conflicting classifications of pathogenicity	not specified Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA176256	rs_147011199	7 SubmittersRCV000150794 RCV000724661 RCV005318334
NM_032119.4(ADGRV1):c.21A>C (p.Pro7=)	SNV Germline	Chr5:90558916	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA184314	rs_727504831	2 SubmittersRCV000156171 RCV001240093
NM_032119.4(ADGRV1):c.787G>A (p.Val263Met)	SNV Germline	Chr5:90627325	Conflicting classifications of pathogenicity	not specified Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA184940	rs_727505056	4 SubmittersRCV000156485 RCV002515022 RCV004975301
NM_032119.4(ADGRV1):c.1049C>A (p.Thr350Asn)	SNV Germline	Chr5:90627587	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA183676	rs_727504607	3 SubmittersRCV000155858 RCV001850139
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.5623G>A (p.Gly1875Arg)	SNV Germline	Chr5:90681413	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA176195	rs_727503075	2 SubmittersRCV000150760 RCV001850050
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.9291T>G (p.Ser3097Arg)	SNV Germline	Chr5:90716573	Conflicting classifications of pathogenicity	not specified Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA184901	rs_727505041	4 SubmittersRCV000156468 RCV001045007 RCV002516336
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.12463C>T (p.Pro4155Ser)	SNV Germline	Chr5:90776512	Conflicting classifications of pathogenicity	not specified Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA176231	rs_576429729	5 SubmittersRCV000150781 RCV000728658 RCV002514900
NM_032119.4(ADGRV1):c.12506A>G (p.Tyr4169Cys)	SNV Germline	Chr5:90776555	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA176227	rs_577389548	3 SubmittersRCV000150779 RCV001242873
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.13765G>A (p.Val4589Met)	SNV Germline	Chr5:90788182	Conflicting classifications of pathogenicity	not specified Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA176239	rs_375258567	5 SubmittersRCV000150785 RCV001048288 RCV004609309
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_032119.4(ADGRV1):c.17512G>A (p.Val5838Ile)	SNV Germline	Chr5:90854119	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA184561	rs_727504913	2 SubmittersRCV000156298 RCV001059912
NM_032119.4(ADGRV1):c.17722G>A (p.Ala5908Thr)	SNV Germline	Chr5:90855868	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA183221	rs_560274484	3 SubmittersRCV000155654 RCV003764954
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_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_032119.4(ADGRV1):c.2106G>A (p.Val702=)	SNV Germline	Chr5:90637814	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA239671	rs_749630454	2 SubmittersRCV000174170
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_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_032119.4(ADGRV1):c.4975G>A (p.Glu1659Lys)	SNV Germline	Chr5:90674099	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA242367	rs_775893405	2 SubmittersRCV000176427
NM_032119.4(ADGRV1):c.5953A>C (p.Asn1985His)	SNV Germline	Chr5:90683874	Conflicting classifications of pathogenicity	not specified Condition: not provided ADGRV1-related disorder	Criteria Provided Conflicting Classifications	CA242978	rs_41303352	4 SubmittersRCV000222295 RCV000724008 RCV004552988
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_032119.4(ADGRV1):c.357+8C>T	SNV Germline	Chr5:90617961	Conflicting classifications of pathogenicity	Condition: not provided ADGRV1-related disorder	Criteria Provided Conflicting Classifications	CA243559	rs_376004946	4 SubmittersRCV000177386 RCV004552991
NM_032119.4(ADGRV1):c.6684T>A (p.Ser2228=)	SNV Germline	Chr5:90690054	Conflicting classifications of pathogenicity	Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA243654	rs_373667458	4 SubmittersRCV000177476 RCV005406896
NM_032119.4(ADGRV1):c.7095G>A (p.Leu2365=)	SNV Germline	Chr5:90692748	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA244177	rs_794727564	2 SubmittersRCV000177664
NM_032119.4(ADGRV1):c.8156-6T>C	SNV Germline	Chr5:90703659	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA244806	rs_574939589	3 SubmittersRCV000177851
NM_032119.4(ADGRV1):c.9083A>G (p.Asn3028Ser)	SNV Germline	Chr5:90712327	Conflicting classifications of pathogenicity	not specified Condition: not provided ADGRV1-related disorder	Criteria Provided Conflicting Classifications	CA245640	rs_150549897	5 SubmittersRCV000178509 RCV000724092 RCV004553008
NM_032119.4(ADGRV1):c.9631T>C (p.Ser3211Pro)	SNV Germline	Chr5:90720942	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA245751	rs_766184763	2 SubmittersRCV000178586
NM_032119.4(ADGRV1):c.9772G>A (p.Val3258Ile)	SNV Germline	Chr5:90724855	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA245786	rs_764987437	4 SubmittersRCV000178611 RCV000724777
NM_032119.4(ADGRV1):c.10323G>T (p.Gly3441=)	SNV Germline	Chr5:90728830	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA245868	rs_373354231	3 SubmittersRCV000222142 RCV000724619
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_032119.4(ADGRV1):c.10563T>C (p.Leu3521=)	SNV Germline	Chr5:90745059	Conflicting classifications of pathogenicity	not specified Condition: not provided ADGRV1-related disorder	Criteria Provided Conflicting Classifications	CA246318	rs_200946170	5 SubmittersRCV000179095 RCV000724340 RCV004553012
NM_032119.4(ADGRV1):c.11157C>A (p.Ile3719=)	SNV Germline	Chr5:90753609	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA246399	rs_762094907	2 SubmittersRCV000179155
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_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_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_032119.4(ADGRV1):c.1140A>G (p.Gln380=)	SNV Germline	Chr5:90627678	Conflicting classifications of pathogenicity	Condition: not provided ADGRV1-related disorder	Criteria Provided Conflicting Classifications	CA247337	rs_373902384	4 SubmittersRCV000724820 RCV004553018
NM_032119.4(ADGRV1):c.14970C>A (p.Leu4990=)	SNV Germline	Chr5:90807735	Conflicting classifications of pathogenicity	Condition: not provided ADGRV1-related disorder	Criteria Provided Conflicting Classifications	CA247438	rs_368420512	3 SubmittersRCV000180053 RCV004553019
NM_032119.4(ADGRV1):c.15837C>A (p.Ile5279=)	SNV Germline	Chr5:90811097	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA247443	rs_765630970	3 SubmittersRCV000180058
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_032119.4(ADGRV1):c.16745C>T (p.Thr5582Met)	SNV Germline	Chr5:90840711	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA247473	rs_771468922	3 SubmittersRCV000180080
NM_032119.4(ADGRV1):c.1374T>A (p.Phe458Leu)	SNV Germline	Chr5:90628697	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA247815	rs_373868639	2 SubmittersRCV000180374
NM_032119.4(ADGRV1):c.17669T>A (p.Met5890Lys)	SNV Germline	Chr5:90855815	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA247878	rs_142905845	3 SubmittersRCV000180414 RCV004020170
NM_032119.4(ADGRV1):c.1675T>C (p.Tyr559His)	SNV Germline	Chr5:90629375	Conflicting classifications of pathogenicity	Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA248238	rs_779671690	3 SubmittersRCV000180692 RCV001195357
NM_032119.4(ADGRV1):c.2021A>G (p.Tyr674Cys)	SNV Germline	Chr5:90637729	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA207849	rs_761220696	3 SubmittersRCV000193989 RCV002517943
NM_032119.4(ADGRV1):c.2734+8A>G	SNV Germline	Chr5:90643991	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA209905	rs_371906040	4 SubmittersRCV000195232 RCV000726363
NM_032119.4(ADGRV1):c.10697T>C (p.Ile3566Thr)	SNV Germline	Chr5:90745193	Conflicting classifications of pathogenicity	not specified Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA208796	rs_201483312	5 SubmittersRCV000194558 RCV000727165 RCV002517942
NM_032119.4(ADGRV1):c.5587G>A (p.Val1863Ile)	SNV Germline	Chr5:90681377	Conflicting classifications of pathogenicity	not specified Condition: not provided Inborn genetic diseases ADGRV1-related disorder	Criteria Provided Conflicting Classifications	CA249286	rs_529184143	5 SubmittersRCV000203085 RCV001339542 RCV002517358 RCV004737323
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_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_032119.4(ADGRV1):c.222C>T (p.Asp74=)	SNV Germline	Chr5:90617818	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA3338418	rs_181146384	4 SubmittersRCV000215787 RCV000726477
NM_032119.4(ADGRV1):c.328G>A (p.Glu110Lys)	SNV Germline	Chr5:90617924	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA10576659	rs_876657822	3 SubmittersRCV000222486 RCV001240566
NM_032119.4(ADGRV1):c.466G>A (p.Ala156Thr)	SNV Germline	Chr5:90622609	Conflicting classifications of pathogenicity	not specified Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3338481	rs_201180985	5 SubmittersRCV000218086 RCV001231185 RCV004020592
NM_032119.4(ADGRV1):c.1033C>A (p.Gln345Lys)	SNV Germline	Chr5:90627571	Conflicting classifications of pathogenicity	not specified Condition: not provided ADGRV1-related disorder	Criteria Provided Conflicting Classifications	CA3338598	rs_201236317	7 SubmittersRCV000214466 RCV000725783 RCV004737337
NM_032119.4(ADGRV1):c.1056G>A (p.Pro352=)	SNV Germline	Chr5:90627594	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA3338604	rs_115239207	6 SubmittersRCV000217397 RCV000725571
NM_032119.4(ADGRV1):c.1799A>G (p.Asn600Ser)	SNV Germline	Chr5:90629499	Conflicting classifications of pathogenicity	not specified Condition: not provided ADGRV1-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10576662	rs_876657823	5 SubmittersRCV000215523 RCV002519632 RCV004547519 RCV003343710
NM_032119.4(ADGRV1):c.2023A>C (p.Ile675Leu)	SNV Germline	Chr5:90637731	Conflicting classifications of pathogenicity	not specified Condition: not provided ADGRV1-related disorder	Criteria Provided Conflicting Classifications	CA3338816	rs_200187681	6 SubmittersRCV000214173 RCV000726032 RCV004547513
NM_032119.4(ADGRV1):c.2459A>G (p.Asn820Ser)	SNV Germline	Chr5:90642947	Conflicting classifications of pathogenicity	not specified Condition: not provided ADGRV1-related disorder	Criteria Provided Conflicting Classifications	CA3338934	rs_144918959	5 SubmittersRCV000220120 RCV000726241 RCV004737340
NM_032119.4(ADGRV1):c.5072C>T (p.Thr1691Met)	SNV Germline	Chr5:90674196	Conflicting classifications of pathogenicity	not specified Condition: not provided ADGRV1-related disorder	Criteria Provided Conflicting Classifications	CA3339472	rs_146954342	8 SubmittersRCV000221347 RCV000726030 RCV004547514
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.7748A>G (p.Tyr2583Cys)	SNV Germline	Chr5:90694504	Conflicting classifications of pathogenicity	not specified Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3340084	rs_778879752	3 SubmittersRCV000216359 RCV001070126 RCV004020619
NM_032119.4(ADGRV1):c.8585A>G (p.Tyr2862Cys)	SNV Germline	Chr5:90706249	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA10576666	rs_876657827	3 SubmittersRCV000219980 RCV001235514
NM_032119.4(ADGRV1):c.8779G>A (p.Val2927Ile)	SNV Germline	Chr5:90708864	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA3340350	rs_547397177	4 SubmittersRCV000214320 RCV000767096
NM_032119.4(ADGRV1):c.8995C>G (p.Gln2999Glu)	SNV Germline	Chr5:90711275	Conflicting classifications of pathogenicity	not specified Condition: not provided Febrile seizures, familial, 4	Criteria Provided Conflicting Classifications	CA3340414	rs_200503628	4 SubmittersRCV000217453 RCV001035501 RCV004799200
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.12101T>G (p.Phe4034Cys)	SNV Germline	Chr5:90759569	Likely pathogenic	Rare genetic deafness	Criteria Provided Single Submitter	CA10576668	rs_876657647	1 SubmittersRCV000221151
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.14185G>A (p.Asp4729Asn)	SNV Germline	Chr5:90791014	Conflicting classifications of pathogenicity	not specified Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3341682	rs_778820230	3 SubmittersRCV000218726 RCV002519606 RCV005549927
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.14373T>A (p.Ala4791=)	SNV Germline	Chr5:90791202	Conflicting classifications of pathogenicity	not specified Condition: not provided ADGRV1-related disorder	Criteria Provided Conflicting Classifications	CA3341715	rs_375062187	8 SubmittersRCV000222926 RCV000725569 RCV004737339
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.14432C>T (p.Pro4811Leu)	SNV Germline	Chr5:90791261	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA3341727	rs_201747452	3 SubmittersRCV000215353 RCV000726146
NM_032119.4(ADGRV1):c.14885G>A (p.Trp4962Ter)	SNV Germline	Chr5:90807650	Pathogenic	Rare genetic deafness	Criteria Provided Single Submitter	CA10576673	rs_876657694	1 SubmittersRCV000217974
NM_032119.4(ADGRV1):c.16079-11C>G	SNV Germline	Chr5:90815608	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA3342044	rs_374007277	5 SubmittersRCV000217117 RCV001569020
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_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_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_032119.4(ADGRV1):c.17857-6T>C	SNV Germline	Chr5:90965409	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3342487	rs_773357747	2 SubmittersRCV000343901
NM_032119.4(ADGRV1):c.8292G>A (p.Ser2764=)	SNV Germline	Chr5:90704394	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3340226	rs_778011573	2 SubmittersRCV000281931
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.6338A>G (p.Asn2113Ser)	SNV Germline	Chr5:90685843	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3339761	rs_201579557	2 SubmittersRCV000387378
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_032119.4(ADGRV1):c.8842G>A (p.Ala2948Thr)	SNV Germline	Chr5:90710998	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Febrile seizures, familial, 4	Criteria Provided Conflicting Classifications	CA3340384	rs_369777874	6 SubmittersRCV000299456 RCV004021144 RCV004799205
NM_032119.4(ADGRV1):c.15059C>A (p.Thr5020Lys)	SNV Germline	Chr5:90810319	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3341865	rs_753667658	3 SubmittersRCV000364792
NM_032119.4(ADGRV1):c.14931A>G (p.Leu4977=)	SNV Germline	Chr5:90807696	Conflicting classifications of pathogenicity	Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA3341835	rs_760841840	4 SubmittersRCV000269453 RCV001700027
NM_032119.4(ADGRV1):c.17215A>G (p.Ile5739Val)	SNV Germline	Chr5:90853294	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3342332	rs_747089219	2 SubmittersRCV000319090
NM_032119.4(ADGRV1):c.8815C>T (p.Pro2939Ser)	SNV Germline	Chr5:90708900	Conflicting classifications of pathogenicity	not specified Condition: not provided ADGRV1-related disorder	Criteria Provided Conflicting Classifications	CA3340357	rs_202211640	5 SubmittersRCV000388577 RCV000725549 RCV004547692
NM_032119.4(ADGRV1):c.7806C>G (p.Pro2602=)	SNV Germline	Chr5:90694562	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA3340094	rs_200241260	6 SubmittersRCV000325043 RCV000725570
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_032119.4(ADGRV1):c.16226G>A (p.Arg5409Gln)	SNV Germline	Chr5:90823454	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3342090	rs_567881943	3 SubmittersRCV000400246 RCV005549935
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_032119.4(ADGRV1):c.4550G>T (p.Arg1517Ile)	SNV Germline	Chr5:90658076	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3339368	rs_756555904	2 SubmittersRCV000393018
NM_032119.4(ADGRV1):c.18144T>C (p.His6048=)	SNV Germline	Chr5:90985514	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3342562	rs_188017433	2 SubmittersRCV000406802
NM_032119.4(ADGRV1):c.15987C>T (p.Tyr5329=)	SNV Germline	Chr5:90811247	Conflicting classifications of pathogenicity	Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA3342016	rs_142097643	4 SubmittersRCV000314994 RCV001074279
NM_032119.4(ADGRV1):c.2820A>G (p.Val940=)	SNV Germline	Chr5:90644791	Conflicting classifications of pathogenicity	Condition: not provided not specified ADGRV1-related disorder	Criteria Provided Conflicting Classifications	CA3339026	rs_369910075	4 SubmittersRCV000316660 RCV000825097 RCV004547712
NM_032119.4(ADGRV1):c.5658A>G (p.Thr1886=)	SNV Germline	Chr5:90681448	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3339629	rs_377468788	2 SubmittersRCV000345314
NM_032119.4(ADGRV1):c.2740T>C (p.Tyr914His)	SNV Germline	Chr5:90644711	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases ADGRV1-related disorder	Criteria Provided Conflicting Classifications	CA3339011	rs_189967386	5 SubmittersRCV000302523 RCV002519279 RCV004549592
NM_032119.4(ADGRV1):c.6229G>A (p.Glu2077Lys)	SNV Germline	Chr5:90684150	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3339727	rs_200372116	3 SubmittersRCV000404734
NM_032119.4(ADGRV1):c.684T>C (p.Asn228=)	SNV Germline	Chr5:90627222	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3338545	rs_181889432	3 SubmittersRCV000353953
NM_032119.4(ADGRV1):c.12176C>T (p.Thr4059Met)	SNV Germline	Chr5:90763360	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3341165	rs_376833921	2 SubmittersRCV000371698
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_032119.4(ADGRV1):c.11253C>T (p.Tyr3751=)	SNV Germline	Chr5:90753705	Conflicting classifications of pathogenicity	Condition: not provided ADGRV1-related disorder	Criteria Provided Conflicting Classifications	CA3340932	rs_376689763	3 SubmittersRCV000343323 RCV004549598
NM_032119.4(ADGRV1):c.5379T>C (p.Thr1793=)	SNV Germline	Chr5:90676145	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3339554	rs_772972763	2 SubmittersRCV000370141
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_032119.4(ADGRV1):c.16248C>G (p.Val5416=)	SNV Germline	Chr5:90823476	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3342093	rs_3763073	2 SubmittersRCV000361251
NM_032119.4(ADGRV1):c.15334C>T (p.Arg5112Cys)	SNV Germline	Chr5:90810594	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3341899	rs_372400654	5 SubmittersRCV000351243 RCV005318364
NM_032119.4(ADGRV1):c.2567A>G (p.Tyr856Cys)	SNV Germline	Chr5:90643816	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3338969	rs_558804189	2 SubmittersRCV000388643
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_032119.4(ADGRV1):c.8004C>T (p.Asp2668=)	SNV Germline	Chr5:90696995	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3340142	rs_369591434	2 SubmittersRCV000319497
NM_032119.4(ADGRV1):c.15177G>T (p.Gln5059His)	SNV Germline	Chr5:90810437	Conflicting classifications of pathogenicity	not specified Condition: not provided ADGRV1-related disorder	Criteria Provided Conflicting Classifications	CA3341877	rs_201416399	6 SubmittersRCV000376440 RCV000710434 RCV004737422
NM_032119.4(ADGRV1):c.17187C>T (p.Cys5729=)	SNV Germline	Chr5:90848804	Conflicting classifications of pathogenicity	Condition: not provided ADGRV1-related disorder	Criteria Provided Conflicting Classifications	CA3342306	rs_371639191	4 SubmittersRCV000372182 RCV004549615
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_032119.4(ADGRV1):c.17973+7A>G	SNV Germline	Chr5:90965538	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3342512	rs_751094041	2 SubmittersRCV000392756
NM_032119.4(ADGRV1):c.2991T>C (p.Ile997=)	SNV Germline	Chr5:90646060	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3339079	rs_570773279	3 SubmittersRCV000330872
NM_032119.4(ADGRV1):c.5537T>C (p.Val1846Ala)	SNV Germline	Chr5:90681327	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3339613	rs_756062421	3 SubmittersRCV000385105 RCV005318366
NM_032119.4(ADGRV1):c.3819G>A (p.Arg1273=)	SNV Germline	Chr5:90653393	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3339245	rs_764738838	2 SubmittersRCV000288423
NM_032119.4(ADGRV1):c.5578G>A (p.Ala1860Thr)	SNV Germline	Chr5:90681368	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3339622	rs_369603835	2 SubmittersRCV000389889
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_032119.4(ADGRV1):c.11122-2A>G	SNV Germline	Chr5:90753572	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA16042615	rs_1057517741	1 SubmittersRCV000413287
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_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.17235T>G (p.Tyr5745Ter)	SNV Germline	Chr5:90853314	Pathogenic/Likely pathogenic	Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16603198	rs_1057520080	2 SubmittersRCV000417723
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_032119.4(ADGRV1):c.16436A>G (p.Asn5479Ser)	SNV Germline	Chr5:90829011	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3342155	rs_368738607	3 SubmittersRCV001054812 RCV004022451
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_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_032119.4(ADGRV1):c.14366G>A (p.Arg4789Gln)	SNV Germline	Chr5:90791195	Pathogenic/Likely pathogenic	Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA3341713	rs_765849229	2 SubmittersRCV000482131
NM_032119.4(ADGRV1):c.14975C>G (p.Ser4992Ter)	SNV Germline	Chr5:90810235	Pathogenic/Likely pathogenic	Condition: not provided ADGRV1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA16618223	rs_900228710	3 SubmittersRCV000486698 RCV003323562
NM_032119.4(ADGRV1):c.442T>C (p.Ser148Pro)	SNV Germline	Chr5:90619170	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3338464	rs_769994130	2 SubmittersRCV000487988
NM_032119.4(ADGRV1):c.17621A>G (p.Lys5874Arg)	SNV Germline	Chr5:90855767	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3342405	rs_199516167	2 SubmittersRCV000487764
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_032119.4(ADGRV1):c.9661G>A (p.Val3221Met)	SNV Germline	Chr5:90720972	Conflicting classifications of pathogenicity	Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA3340570	rs_368092861	3 SubmittersRCV000492811 RCV001075228
NM_032119.4(ADGRV1):c.14365C>T (p.Arg4789Trp)	SNV Germline	Chr5:90791194	Conflicting classifications of pathogenicity	Condition: not provided Rare genetic deafness Retinal dystrophy not specified	Criteria Provided Conflicting Classifications	CA360401651	rs_1131691924	6 SubmittersRCV000493267 RCV000609544 RCV001073322 RCV004767303
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_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_032119.4(ADGRV1):c.17276A>G (p.Asn5759Ser)	SNV Germline	Chr5:90853355	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA3342339	rs_375445058	2 SubmittersRCV000507340 RCV003698794
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_032119.4(ADGRV1):c.17987G>T (p.Trp5996Leu)	SNV Germline	Chr5:90985357	Conflicting classifications of pathogenicity	Condition: not provided Retinal dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3342531	rs_544077645	5 SubmittersRCV000514645 RCV001075116 RCV004609417
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_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_032119.4(ADGRV1):c.17613G>A (p.Gln5871=)	SNV Germline	Chr5:90855759	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA3342404	rs_371091564	3 SubmittersRCV000825104 RCV000591554
NM_032119.4(ADGRV1):c.5835G>A (p.Lys1945=)	SNV Germline	Chr5:90683756	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3339674	rs_569899625	2 SubmittersRCV000591109
NM_032119.4(ADGRV1):c.17349A>G (p.Ala5783=)	SNV Germline	Chr5:90853428	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3342348	rs_747992951	2 SubmittersRCV000596260
NM_032119.4(ADGRV1):c.13654-7C>T	SNV Germline	Chr5:90788064	Conflicting classifications of pathogenicity	Condition: not provided ADGRV1-related disorder	Criteria Provided Conflicting Classifications	CA3341581	rs_373551551	3 SubmittersRCV000593152 RCV004737862
NM_032119.4(ADGRV1):c.8791A>G (p.Met2931Val)	SNV Germline	Chr5:90708876	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA360393567	rs_1250073917	3 SubmittersRCV000595560
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_032119.4(ADGRV1):c.12682A>G (p.Ile4228Val)	SNV Germline	Chr5:90778442	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA3341317	rs_532836800	4 SubmittersRCV000591249 RCV004609448 RCV005056259
NM_032119.4(ADGRV1):c.10051C>T (p.Leu3351=)	SNV Germline	Chr5:90725230	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA445468676	rs_1445890457	2 SubmittersRCV000595445
NM_032119.4(ADGRV1):c.3563T>C (p.Ile1188Thr)	SNV Germline	Chr5:90652492	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3339204	rs_368562997	2 SubmittersRCV000593656
NM_032119.4(ADGRV1):c.10322G>C (p.Gly3441Ala)	SNV Germline	Chr5:90728829	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3340727	rs_200464486	4 SubmittersRCV000593274 RCV005318443
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_032119.4(ADGRV1):c.17388G>A (p.Gln5796=)	SNV Germline	Chr5:90853467	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3342355	rs_183208875	2 SubmittersRCV000595973
NM_032119.4(ADGRV1):c.18879C>T (p.Ile6293=)	SNV Germline	Chr5:91163858	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3342767	rs_372350188	5 SubmittersRCV000710439
NM_032119.4(ADGRV1):c.17794A>C (p.Arg5932=)	SNV Germline	Chr5:90863795	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3342457	rs_747728554	2 SubmittersRCV000594070
NM_032119.4(ADGRV1):c.2543G>A (p.Gly848Glu)	SNV Germline	Chr5:90643031	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA121834441	rs_959132080	3 SubmittersRCV000591486 RCV002532570
NM_032119.4(ADGRV1):c.12823C>T (p.Gln4275Ter)	SNV Germline	Chr5:90778583	Pathogenic	Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA3341340	rs_768589991	2 SubmittersRCV000594440
NM_032119.4(ADGRV1):c.754A>G (p.Ile252Val)	SNV Germline	Chr5:90627292	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA360365661	rs_1299020576	4 SubmittersRCV000595980 RCV005318446
NM_032119.4(ADGRV1):c.17869G>A (p.Ala5957Thr)	SNV Germline	Chr5:90965427	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3342493	rs_765800403	3 SubmittersRCV000593378 RCV002532655
NM_032119.4(ADGRV1):c.13130C>A (p.Pro4377His)	SNV Germline	Chr5:90781477	Conflicting classifications of pathogenicity	Condition: not provided ADGRV1-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3341445	rs_542081391	4 SubmittersRCV000597338 RCV004737877 RCV005318448
NM_032119.4(ADGRV1):c.12778G>T (p.Val4260Leu)	SNV Germline	Chr5:90778538	Conflicting classifications of pathogenicity	Condition: not provided not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3341330	rs_773072116	5 SubmittersRCV000594094 RCV004586825 RCV004975708
NM_032119.4(ADGRV1):c.18229G>A (p.Val6077Met)	SNV Germline	Chr5:91072523	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3342598	rs_762746997	2 SubmittersRCV000593568
NM_032119.4(ADGRV1):c.2538G>A (p.Leu846=)	SNV Germline	Chr5:90643026	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3338954	rs_375415491	2 SubmittersRCV000597454
NM_032119.4(ADGRV1):c.6290G>A (p.Arg2097His)	SNV Germline	Chr5:90685795	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA360362722	rs_572910896	3 SubmittersRCV000591847 RCV002532674
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_032119.4(ADGRV1):c.2302G>T (p.Glu768Ter)	SNV Germline	Chr5:90642697	Pathogenic	Rare genetic deafness	Criteria Provided Single Submitter	CA360387381	rs_1554068885	1 SubmittersRCV000605491
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.3943C>A (p.Gln1315Lys)	SNV Germline	Chr5:90653517	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA3339264	rs_764685377	2 SubmittersRCV000602861 RCV001854133
NM_032119.4(ADGRV1):c.9918A>G (p.Ile3306Met)	SNV Germline	Chr5:90725097	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA360402828	rs_1264693693	2 SubmittersRCV000601339 RCV001860343
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.13600A>G (p.Met4534Val)	SNV Germline	Chr5:90784004	Conflicting classifications of pathogenicity	not specified Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA3341561	rs_761667882	3 SubmittersRCV000609366 RCV004619351 RCV003767453
NM_032119.4(ADGRV1):c.15719C>T (p.Thr5240Ile)	SNV Germline	Chr5:90810979	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA3341968	rs_768299251	3 SubmittersRCV000615108 RCV002509465
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.929G>A (p.Gly310Glu)	SNV Germline	Chr5:90627467	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA3338582	rs_766790920	3 SubmittersRCV000611584 RCV001038199
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_032119.4(ADGRV1):c.14496C>A (p.Asp4832Glu)	SNV Germline	Chr5:90791325	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA3341739	rs_753803615	3 SubmittersRCV003767461 RCV004024902 RCV000605661
NM_032119.4(ADGRV1):c.14719G>A (p.Val4907Ile)	SNV Germline	Chr5:90805341	Conflicting classifications of pathogenicity	not specified Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3341795	rs_373391623	3 SubmittersRCV000613755 RCV001227797 RCV004975709
NM_032119.4(ADGRV1):c.968T>C (p.Ile323Thr)	SNV Germline	Chr5:90627506	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA3338588	rs_757910491	2 SubmittersRCV000606227 RCV003698799
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.5969T>C (p.Val1990Ala)	SNV Germline	Chr5:90683890	Conflicting classifications of pathogenicity	Condition: not provided not specified Hearing impairment	Criteria Provided Conflicting Classifications	CA3339693	rs_376559614	3 SubmittersRCV002529339 RCV000599806 RCV001375441
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.8198G>T (p.Arg2733Leu)	SNV Germline	Chr5:90703707	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA360388828	rs_749383906	2 SubmittersRCV000606270 RCV001860253
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.14575G>A (p.Gly4859Ser)	SNV Germline	Chr5:90802796	Conflicting classifications of pathogenicity	Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA3341761	rs_747275713	2 SubmittersRCV002529358 RCV000613973
NM_032119.4(ADGRV1):c.16190C>T (p.Pro5397Leu)	SNV Germline	Chr5:90815730	Conflicting classifications of pathogenicity	Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA122824820	rs_998194428	2 SubmittersRCV002529310 RCV000613349
NM_032119.4(ADGRV1):c.16447T>C (p.Phe5483Leu)	SNV Germline	Chr5:90829022	Conflicting classifications of pathogenicity	Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA3342159	rs_376863164	3 SubmittersRCV001327498 RCV000613469
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.18125A>G (p.Gln6042Arg)	SNV Germline	Chr5:90985495	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA3342559	rs_764963960	2 SubmittersRCV000613842 RCV003767743
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.838A>T (p.Ile280Leu)	SNV Germline	Chr5:90627376	Conflicting classifications of pathogenicity	not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3338573	rs_772896545	2 SubmittersRCV000601945 RCV004025020
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_032119.4(ADGRV1):c.6275-9G>T	SNV Germline	Chr5:90685771	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA560896532	rs_1206365367	2 SubmittersRCV000601462 RCV002060630
NM_032119.4(ADGRV1):c.7907A>G (p.Asp2636Gly)	SNV Germline	Chr5:90694663	Conflicting classifications of pathogenicity	Condition: not provided not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3340110	rs_770468449	3 SubmittersRCV001854139 RCV000607108 RCV005318450
NM_032119.4(ADGRV1):c.9054T>G (p.Phe3018Leu)	SNV Germline	Chr5:90712298	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA3340437	rs_186975400	3 SubmittersRCV000604616 RCV001227016
NM_032119.4(ADGRV1):c.9557C>A (p.Thr3186Asn)	SNV Germline	Chr5:90720157	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA3340532	rs_201511311	2 SubmittersRCV000608521 RCV003767456
NM_032119.4(ADGRV1):c.10768A>T (p.Ser3590Cys)	SNV Germline	Chr5:90745264	Conflicting classifications of pathogenicity	Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA3340815	rs_183319660	4 SubmittersRCV001245971 RCV000614895
NM_032119.4(ADGRV1):c.10873C>G (p.Leu3625Val)	SNV Germline	Chr5:90745694	Conflicting classifications of pathogenicity	not specified Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA3340843	rs_761066341	4 SubmittersRCV000613546 RCV001350482 RCV001075454
NM_032119.4(ADGRV1):c.17857-11G>A	SNV Germline	Chr5:90965404	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA658796550	rs_918520562	2 SubmittersRCV000613078 RCV003767438
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_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_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_032119.4(ADGRV1):c.4786G>A (p.Val1596Ile)	SNV Germline	Chr5:90672579	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3339414	rs_371179945	3 SubmittersRCV000710449
NM_032119.4(ADGRV1):c.12979G>A (p.Gly4327Arg)	SNV Germline	Chr5:90778994	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA360389742	rs_1251839466	3 SubmittersRCV000710429 RCV004972908
NM_032119.4(ADGRV1):c.1254A>G (p.Thr418=)	SNV Germline	Chr5:90628577	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA445465305	rs_1315101894	2 SubmittersRCV000727888
NM_032119.4(ADGRV1):c.14928C>T (p.His4976=)	SNV Germline	Chr5:90807693	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA445416801	rs_1251473317	2 SubmittersRCV000728065
NM_032119.4(ADGRV1):c.6524T>C (p.Val2175Ala)	SNV Germline	Chr5:90689894	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA3339820	rs_771811961	4 SubmittersRCV000728515 RCV004026946 RCV004768613
NM_032119.4(ADGRV1):c.5784C>T (p.Ser1928=)	SNV Germline	Chr5:90683705	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3339661	rs_199605700	2 SubmittersRCV000728601
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.2735-8T>C	SNV Germline	Chr5:90644698	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA561259662	rs_1181016921	2 SubmittersRCV000729915
NM_032119.4(ADGRV1):c.14304G>A (p.Ser4768=)	SNV Germline	Chr5:90791133	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3341704	rs_373822878	2 SubmittersRCV000730226
NM_032119.4(ADGRV1):c.18782T>C (p.Leu6261Ser)	SNV Germline	Chr5:91153378	Conflicting classifications of pathogenicity	Condition: not provided ADGRV1-related disorder	Criteria Provided Conflicting Classifications	CA3342735	rs_557331348	4 SubmittersRCV000730423 RCV005431905
NM_032119.4(ADGRV1):c.2885C>G (p.Ser962Cys)	SNV Germline	Chr5:90644856	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3339034	rs_759360751	2 SubmittersRCV000731062
NM_032119.4(ADGRV1):c.1210G>A (p.Val404Ile)	SNV Germline	Chr5:90627748	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3338625	rs_780748586	2 SubmittersRCV000731063
NM_032119.4(ADGRV1):c.1801G>T (p.Asp601Tyr)	SNV Germline	Chr5:90629501	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3338751	rs_375085032	2 SubmittersRCV000731549
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_032119.4(ADGRV1):c.600A>G (p.Pro200=)	SNV Germline	Chr5:90625171	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3338513	rs_776978539	2 SubmittersRCV000732177
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_032119.4(ADGRV1):c.1189A>G (p.Ser397Gly)	SNV Germline	Chr5:90627727	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3338623	rs_377201437	2 SubmittersRCV000733422
NM_032119.4(ADGRV1):c.6859G>A (p.Val2287Ile)	SNV Germline	Chr5:90690949	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA122797042	rs_868801998	2 SubmittersRCV000733909
NM_032119.4(ADGRV1):c.12373A>G (p.Ile4125Val)	SNV Germline	Chr5:90774273	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3341227	rs_766991551	3 SubmittersRCV000734483 RCV003258956
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_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_032119.4(ADGRV1):c.1094A>G (p.Asp365Gly)	SNV Germline	Chr5:90627632	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3338612	rs_779719772	2 SubmittersRCV000755793
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_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_032119.4(ADGRV1):c.12222G>A (p.Trp4074Ter)	SNV Germline	Chr5:90763406	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA360378190	rs_1366388721	1 SubmittersRCV003768449
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_032119.4(ADGRV1):c.4379-1G>A	SNV Germline	Chr5:90657904	Likely pathogenic	Retinitis pigmentosa Condition: not provided	Criteria Provided Single Submitter	CA360403420	rs_1432643009	2 SubmittersRCV000787529 RCV001869188
NM_032119.4(ADGRV1):c.3978T>A (p.Asp1326Glu)	SNV Germline	Chr5:90653552	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA3339276	rs_546224817	3 SubmittersRCV000825860 RCV002067425
NM_032119.4(ADGRV1):c.4771A>G (p.Thr1591Ala)	SNV Germline	Chr5:90672564	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA3339412	rs_775471701	2 SubmittersRCV000825861 RCV001371307
NM_032119.4(ADGRV1):c.5104C>T (p.Pro1702Ser)	SNV Germline	Chr5:90674228	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA3339476	rs_535038304	2 SubmittersRCV000825858 RCV001063746
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.5892T>C (p.Asn1964=)	SNV Germline	Chr5:90683813	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA3339683	rs_201983595	3 SubmittersRCV000825094 RCV001430975
NM_032119.4(ADGRV1):c.6029A>G (p.Lys2010Arg)	SNV Germline	Chr5:90683950	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA3339697	rs_774354351	2 SubmittersRCV000825276 RCV001856267
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.8620C>T (p.Gln2874Ter)	SNV Germline	Chr5:90706284	Pathogenic	Rare genetic deafness Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA360391975	rs_758834029	2 SubmittersRCV000825556 RCV001237241
NM_032119.4(ADGRV1):c.12613T>G (p.Ser4205Ala)	SNV Germline	Chr5:90777990	Conflicting classifications of pathogenicity	not specified Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3341294	rs_746448681	3 SubmittersRCV000825859 RCV001233771 RCV005550061
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_032119.4(ADGRV1):c.564G>T (p.Glu188Asp)	SNV Germline	Chr5:90625135	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3338506	rs_377529304	3 SubmittersRCV000826326 RCV002538247
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.4264A>G (p.Ser1422Gly)	SNV Germline	Chr5:90653838	Conflicting classifications of pathogenicity	Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA3339312	rs_377136573	3 SubmittersRCV002536082 RCV000826329
NM_032119.4(ADGRV1):c.7155G>T (p.Leu2385=)	SNV Germline	Chr5:90693911	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3339987	rs_369886529	2 SubmittersRCV000840707
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_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_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_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_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.15113T>C (p.Ile5038Thr)	SNV Germline	Chr5:90810373	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases ADGRV1-related disorder	Criteria Provided Conflicting Classifications	CA3341871	rs_192561791	5 SubmittersRCV000895852 RCV002539439 RCV004551684
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.17657C>A (p.Ala5886Asp)	SNV Germline	Chr5:90855803	Conflicting classifications of pathogenicity	Condition: not provided ADGRV1-related disorder	Criteria Provided Conflicting Classifications	CA3342411	rs_201254386	3 SubmittersRCV000900411 RCV004738067
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_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_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_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_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_032119.4(ADGRV1):c.12511G>T (p.Gly4171Cys)	SNV Germline	Chr5:90776560	Likely pathogenic	ADGRV1-related myoclonic epilepsy	Criteria Provided Single Submitter	CA360386085	rs_1581088032	1 SubmittersRCV000991205
NM_032119.4(ADGRV1):c.2800C>G (p.Pro934Ala)	SNV Germline	Chr5:90644771	Conflicting classifications of pathogenicity	Condition: not provided ADGRV1-related disorder	Criteria Provided Conflicting Classifications	CA3339022	rs_149600158	3 SubmittersRCV000991486 RCV004553531
NM_032119.4(ADGRV1):c.6728T>C (p.Ile2243Thr)	SNV Germline	Chr5:90690818	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA122797038	rs_1050561499	2 SubmittersRCV000991488
NM_032119.4(ADGRV1):c.7007G>A (p.Arg2336Gln)	SNV Germline	Chr5:90692660	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3339949	rs_755180090	2 SubmittersRCV000991489
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.14632C>T (p.Pro4878Ser)	SNV Germline	Chr5:90802853	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3341771	rs_201072069	4 SubmittersRCV000991484 RCV004030122
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_032119.4(ADGRV1):c.2660A>G (p.His887Arg)	SNV Germline	Chr5:90643909	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3338981	rs_560889543	3 SubmittersRCV000998403 RCV004973237
NM_032119.4(ADGRV1):c.5560A>G (p.Ile1854Val)	SNV Germline	Chr5:90681350	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3339616	rs_758419783	2 SubmittersRCV000998404
NM_032119.4(ADGRV1):c.18831A>G (p.Glu6277=)	SNV Germline	Chr5:91163810	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3342758	rs_549421635	2 SubmittersRCV000998408
NM_032119.4(ADGRV1):c.1684G>T (p.Ala562Ser)	SNV Germline	Chr5:90629384	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA3338734	rs_199636312	3 SubmittersRCV001000689 RCV001359171
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_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_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_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_032119.4(ADGRV1):c.1978A>G (p.Ile660Val)	SNV Germline	Chr5:90635252	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3338792	rs_776952851	2 SubmittersRCV001042783 RCV002553090
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.5156C>T (p.Ala1719Val)	SNV Germline	Chr5:90675288	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3339507	rs_376126357	2 SubmittersRCV001053302
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.5408C>A (p.Ser1803Tyr)	SNV Germline	Chr5:90676174	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases ADGRV1-related disorder	Criteria Provided Conflicting Classifications	CA3339559	rs_371348667	4 SubmittersRCV001063737 RCV004030509 RCV004738146
NM_032119.4(ADGRV1):c.5776C>T (p.Gln1926Ter)	SNV Germline	Chr5:90683697	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA360413361	rs_1449286135	1 SubmittersRCV001041388
NM_032119.4(ADGRV1):c.5784C>G (p.Ser1928Arg)	SNV Germline	Chr5:90683705	Conflicting classifications of pathogenicity	Condition: not provided Retinal dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3339660	rs_199605700	4 SubmittersRCV001058124 RCV001073946 RCV004031836
NM_032119.4(ADGRV1):c.6119A>G (p.Tyr2040Cys)	SNV Germline	Chr5:90684040	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3339711	rs_374889159	2 SubmittersRCV001053303
NM_032119.4(ADGRV1):c.6262C>T (p.Gln2088Ter)	SNV Germline	Chr5:90684183	Pathogenic	Condition: not provided Retinal dystrophy	Criteria Provided Single Submitter	CA360414478	rs_1745312538	2 SubmittersRCV001067675 RCV004813698
NM_032119.4(ADGRV1):c.6326T>C (p.Ile2109Thr)	SNV Germline	Chr5:90685831	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3339757	rs_369891542	4 SubmittersRCV001066837 RCV004977984
NM_032119.4(ADGRV1):c.6332T>C (p.Ile2111Thr)	SNV Germline	Chr5:90685837	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3339759	rs_776199730	3 SubmittersRCV001052954 RCV005562542
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.6844A>G (p.Thr2282Ala)	SNV Germline	Chr5:90690934	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3339884	rs_369212457	2 SubmittersRCV001053304
NM_032119.4(ADGRV1):c.7540C>G (p.Gln2514Glu)	SNV Germline	Chr5:90694296	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3340051	rs_773304993	2 SubmittersRCV001063675 RCV004977972
NM_032119.4(ADGRV1):c.7753A>G (p.Ile2585Val)	SNV Germline	Chr5:90694509	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3340085	rs_757369145	2 SubmittersRCV001044091 RCV004973276
NM_032119.4(ADGRV1):c.9820A>G (p.Thr3274Ala)	SNV Germline	Chr5:90724903	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3340599	rs_757193884	2 SubmittersRCV001055981 RCV004977945
NM_032119.4(ADGRV1):c.10150G>A (p.Glu3384Lys)	SNV Germline	Chr5:90725645	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3340675	rs_371240064	2 SubmittersRCV001047106 RCV002553158
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.11725C>A (p.Pro3909Thr)	SNV Germline	Chr5:90756598	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3341029	rs_745891354	2 SubmittersRCV001066676 RCV003160549
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.12369A>G (p.Ile4123Met)	SNV Germline	Chr5:90774269	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3341226	rs_202228562	3 SubmittersRCV001057208 RCV004031802
NM_032119.4(ADGRV1):c.12688G>A (p.Glu4230Lys)	SNV Germline	Chr5:90778448	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3341318	rs_777661211	3 SubmittersRCV001064502 RCV005550121
NM_032119.4(ADGRV1):c.13172T>C (p.Met4391Thr)	SNV Germline	Chr5:90781519	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3341454	rs_745578837	2 SubmittersRCV001041545
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_032119.4(ADGRV1):c.14069T>G (p.Phe4690Cys)	SNV Germline	Chr5:90790898	Conflicting classifications of pathogenicity	Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA3341665	rs_760733336	2 SubmittersRCV002551459 RCV001039972
NM_032119.4(ADGRV1):c.14224G>A (p.Glu4742Lys)	SNV Germline	Chr5:90791053	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3341692	rs_372362723	3 SubmittersRCV001053300 RCV002553754
NM_032119.4(ADGRV1):c.14605C>T (p.Leu4869Phe)	SNV Germline	Chr5:90802826	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3341766	rs_371563402	3 SubmittersRCV001053301 RCV003160423
NM_032119.4(ADGRV1):c.15415G>C (p.Glu5139Gln)	SNV Germline	Chr5:90810675	Conflicting classifications of pathogenicity	Condition: not provided Febrile seizures, familial, 4 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3341916	rs_776241274	3 SubmittersRCV001039795 RCV001839027 RCV003346268
NM_032119.4(ADGRV1):c.15737G>A (p.Arg5246Gln)	SNV Germline	Chr5:90810997	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3341973	rs_772037044	3 SubmittersRCV001063918 RCV004977973
NM_032119.4(ADGRV1):c.15737G>T (p.Arg5246Leu)	SNV Germline	Chr5:90810997	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3341972	rs_772037044	3 SubmittersRCV001040620 RCV005318575
NM_032119.4(ADGRV1):c.16912C>A (p.Pro5638Thr)	SNV Germline	Chr5:90840878	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3342248	rs_768262653	2 SubmittersRCV001060648 RCV004609603
NM_032119.4(ADGRV1):c.8155+1G>A	SNV Germline	Chr5:90697147	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA360386848	rs_1179484173	1 SubmittersRCV001070438
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.4880T>C (p.Phe1627Ser)	SNV Germline	Chr5:90672673	Conflicting classifications of pathogenicity	Condition: not provided Retinal dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3339429	rs_367588475	3 SubmittersRCV001862550 RCV001074290 RCV005550128
NM_032119.4(ADGRV1):c.5042G>C (p.Ser1681Thr)	SNV Germline	Chr5:90674166	Conflicting classifications of pathogenicity	Retinal dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA3339469	rs_781456737	2 SubmittersRCV001074478 RCV003565450
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.8749G>T (p.Glu2917Ter)	SNV Germline	Chr5:90708834	Likely pathogenic	Retinal dystrophy	Criteria Provided Single Submitter	CA360393385	rs_1748947002	1 SubmittersRCV001074207
NM_032119.4(ADGRV1):c.12497C>G (p.Ser4166Ter)	SNV Germline	Chr5:90776546	Pathogenic/Likely pathogenic	Retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA3341260	rs_778188580	2 SubmittersRCV001073722 RCV001862517
NM_032119.4(ADGRV1):c.13772C>T (p.Thr4591Ile)	SNV Germline	Chr5:90788189	Conflicting classifications of pathogenicity	Retinal dystrophy not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA3341609	rs_369108080	5 SubmittersRCV001073997 RCV001195220 RCV001306737
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_032119.4(ADGRV1):c.9906+1G>A	SNV Germline	Chr5:90724990	Pathogenic	Retinal dystrophy	Criteria Provided Single Submitter	CA360402790	rs_1751572548	1 SubmittersRCV001074338
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_032119.4(ADGRV1):c.14837-8T>C	SNV Germline	Chr5:90807594	Conflicting classifications of pathogenicity	Retinal dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA916082742	rs_1762025160	2 SubmittersRCV001074949 RCV001452217
NM_032119.4(ADGRV1):c.1608C>A (p.Tyr536Ter)	SNV Germline	Chr5:90629308	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA360373612	rs_1561416879	1 SubmittersRCV001091920
NM_032119.4(ADGRV1):c.2790G>A (p.Trp930Ter)	SNV Germline	Chr5:90644761	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA360390639	rs_1767488078	1 SubmittersRCV001092759
NM_032119.4(ADGRV1):c.12895C>T (p.Arg4299Ter)	SNV Germline	Chr5:90778910	Pathogenic	Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA3341374	rs_756954694	2 SubmittersRCV001092760
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.8495C>A (p.Ser2832Ter)

SNV
Germline

Chr5:90705508

Pathogenic

Febrile seizures, familial, 4

No Assertion Criteria Provided

CA215127

rs_121909761

1 SubmittersRCV000007199

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_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.11253C>G (p.Tyr3751Ter)

SNV
Germline

Chr5:90753705

Pathogenic

Rare genetic deafness

Criteria Provided
Single Submitter

CA261831

rs_376689763

1 SubmittersRCV000039510

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.1505C>T (p.Ala502Val)

SNV
Germline

Chr5:90628828

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA138040

rs_367826825

3 SubmittersRCV000039532 RCV002513547

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.15786C>T (p.Phe5262=)

SNV
Germline

Chr5:90811046

Conflicting classifications of pathogenicity

not specified
Condition: not provided
ADGRV1-related disorder

Criteria Provided
Conflicting Classifications

CA138049

rs_369083434

5 SubmittersRCV000039537 RCV000725984 RCV004549460

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.6242C>G (p.Ser2081Cys)

SNV
Germline

Chr5:90684163

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA138169

rs_201210744

4 SubmittersRCV000039605 RCV001366393 RCV005318318

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.6443C>T (p.Ala2148Val)

SNV
Germline

Chr5:90685948

Conflicting classifications of pathogenicity

not specified
Condition: not provided
ADGRV1-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA138177

rs_375921325

6 SubmittersRCV000039609 RCV000724387 RCV004737180 RCV002513551

NM_032119.4(ADGRV1):c.690A>C (p.Glu230Asp)

SNV
Germline

Chr5:90627228

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA138185

rs_397517434

3 SubmittersRCV003688825

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.7150C>T (p.Arg2384Trp)

SNV
Germline

Chr5:90693906

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA138194

rs_377475657

4 SubmittersRCV000039618 RCV000756976

NM_032119.4(ADGRV1):c.7406G>A (p.Trp2469Ter)

SNV
Germline

Chr5:90694162

Pathogenic

Rare genetic deafness

Criteria Provided
Single Submitter

CA261839

rs_397517436

1 SubmittersRCV000039627

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.7569A>G (p.Thr2523=)

SNV
Germline

Chr5:90694325

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA138216

rs_373352597

3 SubmittersRCV000039631 RCV000726325

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.8396C>T (p.Pro2799Leu)

SNV
Germline

Chr5:90705409

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA138240

rs_200179979

4 SubmittersRCV000039644 RCV001362654

NM_032119.4(ADGRV1):c.854G>A (p.Arg285His)

SNV
Germline

Chr5:90627392

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA138246

rs_397517439

2 SubmittersRCV000039647 RCV001852826

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.8591C>T (p.Thr2864Met)

SNV
Germline

Chr5:90706255

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA138251

rs_397517440

2 SubmittersRCV000039650 RCV001325165

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.8938T>C (p.Leu2980=)

SNV
Germline

Chr5:90711218

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA138261

rs_397517442

3 SubmittersRCV000039657 RCV000726062

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.9466A>G (p.Ile3156Val)

SNV
Germline

Chr5:90720066

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA138269

rs_372484022

4 SubmittersRCV000039661 RCV001358284

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_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_032119.4(ADGRV1):c.15959A>T (p.Asp5320Val)

SNV
Germline

Chr5:90811219

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA223819

rs_398124425

2 SubmittersRCV000082289

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_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_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_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_032119.4(ADGRV1):c.11338C>T (p.Arg3780Cys)

SNV
Germline

Chr5:90753790

Conflicting classifications of pathogenicity

Febrile seizures, familial, 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA233296

rs_201742794

2 SubmittersRCV000146067 RCV001213321

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.10066A>G (p.Ile3356Val)

SNV
Germline

Chr5:90725561

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA176212

rs_727503078

3 SubmittersRCV000150770 RCV000732465

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.12207C>T (p.Thr4069=)

SNV
Germline

Chr5:90763391

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA176225

rs_202066007

5 SubmittersRCV000150778 RCV000710426

NM_032119.4(ADGRV1):c.12424C>T (p.Arg4142Trp)

SNV
Germline

Chr5:90776473

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA176229

rs_534226753

2 SubmittersRCV000150780 RCV001304024

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.12721G>A (p.Ala4241Thr)

SNV
Germline

Chr5:90778481

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA183738

rs_727504627

3 SubmittersRCV000155887 RCV001339539

NM_032119.4(ADGRV1):c.13714A>T (p.Ile4572Phe)

SNV
Germline

Chr5:90788131

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA176237

rs_727503082

2 SubmittersRCV000150784 RCV001850051

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.16285G>A (p.Glu5429Lys)

SNV
Germline

Chr5:90823513

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Inborn genetic diseases
ADGRV1-related disorder

Criteria Provided
Conflicting Classifications

CA176242

rs_183851734

6 SubmittersRCV000150787 RCV000724045 RCV002516028 RCV004551309

NM_032119.4(ADGRV1):c.17342A>G (p.Gln5781Arg)

SNV
Germline

Chr5:90853421

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Inborn genetic diseases
ADGRV1-related disorder

Criteria Provided
Conflicting Classifications

CA176254

rs_369717492

6 SubmittersRCV000150793 RCV000724420 RCV003298156 RCV004737232

NM_032119.4(ADGRV1):c.17528A>G (p.Tyr5843Cys)

SNV
Germline

Chr5:90854135

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA176256

rs_147011199

7 SubmittersRCV000150794 RCV000724661 RCV005318334

NM_032119.4(ADGRV1):c.21A>C (p.Pro7=)

SNV
Germline

Chr5:90558916

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA184314

rs_727504831

2 SubmittersRCV000156171 RCV001240093

NM_032119.4(ADGRV1):c.787G>A (p.Val263Met)

SNV
Germline

Chr5:90627325

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA184940

rs_727505056

4 SubmittersRCV000156485 RCV002515022 RCV004975301

NM_032119.4(ADGRV1):c.1049C>A (p.Thr350Asn)

SNV
Germline

Chr5:90627587

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA183676

rs_727504607

3 SubmittersRCV000155858 RCV001850139

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.5623G>A (p.Gly1875Arg)

SNV
Germline

Chr5:90681413

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA176195

rs_727503075

2 SubmittersRCV000150760 RCV001850050

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.9291T>G (p.Ser3097Arg)

SNV
Germline

Chr5:90716573

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA184901

rs_727505041

4 SubmittersRCV000156468 RCV001045007 RCV002516336

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.12463C>T (p.Pro4155Ser)

SNV
Germline

Chr5:90776512

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA176231

rs_576429729

5 SubmittersRCV000150781 RCV000728658 RCV002514900

NM_032119.4(ADGRV1):c.12506A>G (p.Tyr4169Cys)

SNV
Germline

Chr5:90776555

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA176227

rs_577389548

3 SubmittersRCV000150779 RCV001242873

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.13765G>A (p.Val4589Met)

SNV
Germline

Chr5:90788182

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA176239

rs_375258567

5 SubmittersRCV000150785 RCV001048288 RCV004609309

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_032119.4(ADGRV1):c.17512G>A (p.Val5838Ile)

SNV
Germline

Chr5:90854119

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA184561

rs_727504913

2 SubmittersRCV000156298 RCV001059912

NM_032119.4(ADGRV1):c.17722G>A (p.Ala5908Thr)

SNV
Germline

Chr5:90855868

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA183221

rs_560274484

3 SubmittersRCV000155654 RCV003764954

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_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_032119.4(ADGRV1):c.2106G>A (p.Val702=)

SNV
Germline

Chr5:90637814

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA239671

rs_749630454

2 SubmittersRCV000174170

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_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_032119.4(ADGRV1):c.4975G>A (p.Glu1659Lys)

SNV
Germline

Chr5:90674099

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA242367

rs_775893405

2 SubmittersRCV000176427

NM_032119.4(ADGRV1):c.5953A>C (p.Asn1985His)

SNV
Germline

Chr5:90683874

Conflicting classifications of pathogenicity

not specified
Condition: not provided
ADGRV1-related disorder

Criteria Provided
Conflicting Classifications

CA242978

rs_41303352

4 SubmittersRCV000222295 RCV000724008 RCV004552988

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_032119.4(ADGRV1):c.357+8C>T

SNV
Germline

Chr5:90617961

Conflicting classifications of pathogenicity

Condition: not provided
ADGRV1-related disorder

Criteria Provided
Conflicting Classifications

CA243559

rs_376004946

4 SubmittersRCV000177386 RCV004552991

NM_032119.4(ADGRV1):c.6684T>A (p.Ser2228=)

SNV
Germline

Chr5:90690054

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA243654

rs_373667458

4 SubmittersRCV000177476 RCV005406896

NM_032119.4(ADGRV1):c.7095G>A (p.Leu2365=)

SNV
Germline

Chr5:90692748

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA244177

rs_794727564

2 SubmittersRCV000177664

NM_032119.4(ADGRV1):c.8156-6T>C

SNV
Germline

Chr5:90703659

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA244806

rs_574939589

3 SubmittersRCV000177851

NM_032119.4(ADGRV1):c.9083A>G (p.Asn3028Ser)

SNV
Germline

Chr5:90712327

Conflicting classifications of pathogenicity

not specified
Condition: not provided
ADGRV1-related disorder

Criteria Provided
Conflicting Classifications

CA245640

rs_150549897

5 SubmittersRCV000178509 RCV000724092 RCV004553008

NM_032119.4(ADGRV1):c.9631T>C (p.Ser3211Pro)

SNV
Germline

Chr5:90720942

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA245751

rs_766184763

2 SubmittersRCV000178586

NM_032119.4(ADGRV1):c.9772G>A (p.Val3258Ile)

SNV
Germline

Chr5:90724855

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA245786

rs_764987437

4 SubmittersRCV000178611 RCV000724777

NM_032119.4(ADGRV1):c.10323G>T (p.Gly3441=)

SNV
Germline

Chr5:90728830

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA245868

rs_373354231

3 SubmittersRCV000222142 RCV000724619

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_032119.4(ADGRV1):c.10563T>C (p.Leu3521=)

SNV
Germline

Chr5:90745059

Conflicting classifications of pathogenicity

not specified
Condition: not provided
ADGRV1-related disorder

Criteria Provided
Conflicting Classifications

CA246318

rs_200946170

5 SubmittersRCV000179095 RCV000724340 RCV004553012

NM_032119.4(ADGRV1):c.11157C>A (p.Ile3719=)

SNV
Germline

Chr5:90753609

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA246399

rs_762094907

2 SubmittersRCV000179155

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_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_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_032119.4(ADGRV1):c.1140A>G (p.Gln380=)

SNV
Germline

Chr5:90627678

Conflicting classifications of pathogenicity

Condition: not provided
ADGRV1-related disorder

Criteria Provided
Conflicting Classifications

CA247337

rs_373902384

4 SubmittersRCV000724820 RCV004553018

NM_032119.4(ADGRV1):c.14970C>A (p.Leu4990=)

SNV
Germline

Chr5:90807735

Conflicting classifications of pathogenicity

Condition: not provided
ADGRV1-related disorder

Criteria Provided
Conflicting Classifications

CA247438

rs_368420512

3 SubmittersRCV000180053 RCV004553019

NM_032119.4(ADGRV1):c.15837C>A (p.Ile5279=)

SNV
Germline

Chr5:90811097

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA247443

rs_765630970

3 SubmittersRCV000180058

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_032119.4(ADGRV1):c.16745C>T (p.Thr5582Met)

SNV
Germline

Chr5:90840711

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA247473

rs_771468922

3 SubmittersRCV000180080

NM_032119.4(ADGRV1):c.1374T>A (p.Phe458Leu)

SNV
Germline

Chr5:90628697

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA247815

rs_373868639

2 SubmittersRCV000180374

NM_032119.4(ADGRV1):c.17669T>A (p.Met5890Lys)

SNV
Germline

Chr5:90855815

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA247878

rs_142905845

3 SubmittersRCV000180414 RCV004020170

NM_032119.4(ADGRV1):c.1675T>C (p.Tyr559His)

SNV
Germline

Chr5:90629375

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA248238

rs_779671690

3 SubmittersRCV000180692 RCV001195357

NM_032119.4(ADGRV1):c.2021A>G (p.Tyr674Cys)

SNV
Germline

Chr5:90637729

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA207849

rs_761220696

3 SubmittersRCV000193989 RCV002517943

NM_032119.4(ADGRV1):c.2734+8A>G

SNV
Germline

Chr5:90643991

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA209905

rs_371906040

4 SubmittersRCV000195232 RCV000726363

NM_032119.4(ADGRV1):c.10697T>C (p.Ile3566Thr)

SNV
Germline

Chr5:90745193

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA208796

rs_201483312

5 SubmittersRCV000194558 RCV000727165 RCV002517942

NM_032119.4(ADGRV1):c.5587G>A (p.Val1863Ile)

SNV
Germline

Chr5:90681377

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Inborn genetic diseases
ADGRV1-related disorder

Criteria Provided
Conflicting Classifications

CA249286

rs_529184143

5 SubmittersRCV000203085 RCV001339542 RCV002517358 RCV004737323

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_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_032119.4(ADGRV1):c.222C>T (p.Asp74=)

SNV
Germline

Chr5:90617818

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3338418

rs_181146384

4 SubmittersRCV000215787 RCV000726477

NM_032119.4(ADGRV1):c.328G>A (p.Glu110Lys)

SNV
Germline

Chr5:90617924

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10576659

rs_876657822

3 SubmittersRCV000222486 RCV001240566

NM_032119.4(ADGRV1):c.466G>A (p.Ala156Thr)

SNV
Germline

Chr5:90622609

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3338481

rs_201180985

5 SubmittersRCV000218086 RCV001231185 RCV004020592

NM_032119.4(ADGRV1):c.1033C>A (p.Gln345Lys)

SNV
Germline

Chr5:90627571

Conflicting classifications of pathogenicity

not specified
Condition: not provided
ADGRV1-related disorder

Criteria Provided
Conflicting Classifications

CA3338598

rs_201236317

7 SubmittersRCV000214466 RCV000725783 RCV004737337

NM_032119.4(ADGRV1):c.1056G>A (p.Pro352=)

SNV
Germline

Chr5:90627594

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3338604

rs_115239207

6 SubmittersRCV000217397 RCV000725571

NM_032119.4(ADGRV1):c.1799A>G (p.Asn600Ser)

SNV
Germline

Chr5:90629499

Conflicting classifications of pathogenicity

not specified
Condition: not provided
ADGRV1-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10576662

rs_876657823

5 SubmittersRCV000215523 RCV002519632 RCV004547519 RCV003343710

NM_032119.4(ADGRV1):c.2023A>C (p.Ile675Leu)

SNV
Germline

Chr5:90637731

Conflicting classifications of pathogenicity

not specified
Condition: not provided
ADGRV1-related disorder

Criteria Provided
Conflicting Classifications

CA3338816

rs_200187681

6 SubmittersRCV000214173 RCV000726032 RCV004547513

NM_032119.4(ADGRV1):c.2459A>G (p.Asn820Ser)

SNV
Germline

Chr5:90642947

Conflicting classifications of pathogenicity

not specified
Condition: not provided
ADGRV1-related disorder

Criteria Provided
Conflicting Classifications

CA3338934

rs_144918959

5 SubmittersRCV000220120 RCV000726241 RCV004737340

NM_032119.4(ADGRV1):c.5072C>T (p.Thr1691Met)

SNV
Germline

Chr5:90674196

Conflicting classifications of pathogenicity

not specified
Condition: not provided
ADGRV1-related disorder

Criteria Provided
Conflicting Classifications

CA3339472

rs_146954342

8 SubmittersRCV000221347 RCV000726030 RCV004547514

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.7748A>G (p.Tyr2583Cys)

SNV
Germline

Chr5:90694504

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3340084

rs_778879752

3 SubmittersRCV000216359 RCV001070126 RCV004020619

NM_032119.4(ADGRV1):c.8585A>G (p.Tyr2862Cys)

SNV
Germline

Chr5:90706249

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10576666

rs_876657827

3 SubmittersRCV000219980 RCV001235514

NM_032119.4(ADGRV1):c.8779G>A (p.Val2927Ile)

SNV
Germline

Chr5:90708864

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3340350

rs_547397177

4 SubmittersRCV000214320 RCV000767096

NM_032119.4(ADGRV1):c.8995C>G (p.Gln2999Glu)

SNV
Germline

Chr5:90711275

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Febrile seizures, familial, 4

Criteria Provided
Conflicting Classifications

CA3340414

rs_200503628

4 SubmittersRCV000217453 RCV001035501 RCV004799200

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.12101T>G (p.Phe4034Cys)

SNV
Germline

Chr5:90759569

Likely pathogenic

Rare genetic deafness

Criteria Provided
Single Submitter

CA10576668

rs_876657647

1 SubmittersRCV000221151

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.14185G>A (p.Asp4729Asn)

SNV
Germline

Chr5:90791014

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3341682

rs_778820230

3 SubmittersRCV000218726 RCV002519606 RCV005549927

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.14373T>A (p.Ala4791=)

SNV
Germline

Chr5:90791202

Conflicting classifications of pathogenicity

not specified
Condition: not provided
ADGRV1-related disorder

Criteria Provided
Conflicting Classifications

CA3341715

rs_375062187

8 SubmittersRCV000222926 RCV000725569 RCV004737339

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.14432C>T (p.Pro4811Leu)

SNV
Germline

Chr5:90791261

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3341727

rs_201747452

3 SubmittersRCV000215353 RCV000726146

NM_032119.4(ADGRV1):c.14885G>A (p.Trp4962Ter)

SNV
Germline

Chr5:90807650

Pathogenic

Rare genetic deafness

Criteria Provided
Single Submitter

CA10576673

rs_876657694

1 SubmittersRCV000217974

NM_032119.4(ADGRV1):c.16079-11C>G

SNV
Germline

Chr5:90815608

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3342044

rs_374007277

5 SubmittersRCV000217117 RCV001569020

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_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_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_032119.4(ADGRV1):c.17857-6T>C

SNV
Germline

Chr5:90965409

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3342487

rs_773357747

2 SubmittersRCV000343901

NM_032119.4(ADGRV1):c.8292G>A (p.Ser2764=)

SNV
Germline

Chr5:90704394

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3340226

rs_778011573

2 SubmittersRCV000281931

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.6338A>G (p.Asn2113Ser)

SNV
Germline

Chr5:90685843

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3339761

rs_201579557

2 SubmittersRCV000387378

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_032119.4(ADGRV1):c.8842G>A (p.Ala2948Thr)

SNV
Germline

Chr5:90710998

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Febrile seizures, familial, 4

Criteria Provided
Conflicting Classifications

CA3340384

rs_369777874

6 SubmittersRCV000299456 RCV004021144 RCV004799205

NM_032119.4(ADGRV1):c.15059C>A (p.Thr5020Lys)

SNV
Germline

Chr5:90810319

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3341865

rs_753667658

3 SubmittersRCV000364792

NM_032119.4(ADGRV1):c.14931A>G (p.Leu4977=)

SNV
Germline

Chr5:90807696

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3341835

rs_760841840

4 SubmittersRCV000269453 RCV001700027

NM_032119.4(ADGRV1):c.17215A>G (p.Ile5739Val)

SNV
Germline

Chr5:90853294

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3342332

rs_747089219

2 SubmittersRCV000319090

NM_032119.4(ADGRV1):c.8815C>T (p.Pro2939Ser)

SNV
Germline

Chr5:90708900

Conflicting classifications of pathogenicity

not specified
Condition: not provided
ADGRV1-related disorder

Criteria Provided
Conflicting Classifications

CA3340357

rs_202211640

5 SubmittersRCV000388577 RCV000725549 RCV004547692

NM_032119.4(ADGRV1):c.7806C>G (p.Pro2602=)

SNV
Germline

Chr5:90694562

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3340094

rs_200241260

6 SubmittersRCV000325043 RCV000725570

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_032119.4(ADGRV1):c.16226G>A (p.Arg5409Gln)

SNV
Germline

Chr5:90823454

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3342090

rs_567881943

3 SubmittersRCV000400246 RCV005549935

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_032119.4(ADGRV1):c.4550G>T (p.Arg1517Ile)

SNV
Germline

Chr5:90658076

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3339368

rs_756555904

2 SubmittersRCV000393018

NM_032119.4(ADGRV1):c.18144T>C (p.His6048=)

SNV
Germline

Chr5:90985514

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3342562

rs_188017433

2 SubmittersRCV000406802

NM_032119.4(ADGRV1):c.15987C>T (p.Tyr5329=)

SNV
Germline

Chr5:90811247

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA3342016

rs_142097643

4 SubmittersRCV000314994 RCV001074279

NM_032119.4(ADGRV1):c.2820A>G (p.Val940=)

SNV
Germline

Chr5:90644791

Conflicting classifications of pathogenicity

Condition: not provided
not specified
ADGRV1-related disorder

Criteria Provided
Conflicting Classifications

CA3339026

rs_369910075

4 SubmittersRCV000316660 RCV000825097 RCV004547712

NM_032119.4(ADGRV1):c.5658A>G (p.Thr1886=)

SNV
Germline

Chr5:90681448

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3339629

rs_377468788

2 SubmittersRCV000345314

NM_032119.4(ADGRV1):c.2740T>C (p.Tyr914His)

SNV
Germline

Chr5:90644711

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
ADGRV1-related disorder

Criteria Provided
Conflicting Classifications

CA3339011

rs_189967386

5 SubmittersRCV000302523 RCV002519279 RCV004549592

NM_032119.4(ADGRV1):c.6229G>A (p.Glu2077Lys)

SNV
Germline

Chr5:90684150

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3339727

rs_200372116

3 SubmittersRCV000404734

NM_032119.4(ADGRV1):c.684T>C (p.Asn228=)

SNV
Germline

Chr5:90627222

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3338545

rs_181889432

3 SubmittersRCV000353953

NM_032119.4(ADGRV1):c.12176C>T (p.Thr4059Met)

SNV
Germline

Chr5:90763360

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3341165

rs_376833921

2 SubmittersRCV000371698

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_032119.4(ADGRV1):c.11253C>T (p.Tyr3751=)

SNV
Germline

Chr5:90753705

Conflicting classifications of pathogenicity

Condition: not provided
ADGRV1-related disorder

Criteria Provided
Conflicting Classifications

CA3340932

rs_376689763

3 SubmittersRCV000343323 RCV004549598

NM_032119.4(ADGRV1):c.5379T>C (p.Thr1793=)

SNV
Germline

Chr5:90676145

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3339554

rs_772972763

2 SubmittersRCV000370141

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_032119.4(ADGRV1):c.16248C>G (p.Val5416=)

SNV
Germline

Chr5:90823476

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3342093

rs_3763073

2 SubmittersRCV000361251

NM_032119.4(ADGRV1):c.15334C>T (p.Arg5112Cys)

SNV
Germline

Chr5:90810594

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3341899

rs_372400654

5 SubmittersRCV000351243 RCV005318364

NM_032119.4(ADGRV1):c.2567A>G (p.Tyr856Cys)

SNV
Germline

Chr5:90643816

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3338969

rs_558804189

2 SubmittersRCV000388643

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_032119.4(ADGRV1):c.8004C>T (p.Asp2668=)

SNV
Germline

Chr5:90696995

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3340142

rs_369591434

2 SubmittersRCV000319497

NM_032119.4(ADGRV1):c.15177G>T (p.Gln5059His)

SNV
Germline

Chr5:90810437

Conflicting classifications of pathogenicity

not specified
Condition: not provided
ADGRV1-related disorder

Criteria Provided
Conflicting Classifications

CA3341877

rs_201416399

6 SubmittersRCV000376440 RCV000710434 RCV004737422

NM_032119.4(ADGRV1):c.17187C>T (p.Cys5729=)

SNV
Germline

Chr5:90848804

Conflicting classifications of pathogenicity

Condition: not provided
ADGRV1-related disorder

Criteria Provided
Conflicting Classifications

CA3342306

rs_371639191

4 SubmittersRCV000372182 RCV004549615

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_032119.4(ADGRV1):c.17973+7A>G

SNV
Germline

Chr5:90965538

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3342512

rs_751094041

2 SubmittersRCV000392756

NM_032119.4(ADGRV1):c.2991T>C (p.Ile997=)

SNV
Germline

Chr5:90646060

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3339079

rs_570773279

3 SubmittersRCV000330872

NM_032119.4(ADGRV1):c.5537T>C (p.Val1846Ala)

SNV
Germline

Chr5:90681327

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3339613

rs_756062421

3 SubmittersRCV000385105 RCV005318366

NM_032119.4(ADGRV1):c.3819G>A (p.Arg1273=)

SNV
Germline

Chr5:90653393

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3339245

rs_764738838

2 SubmittersRCV000288423

NM_032119.4(ADGRV1):c.5578G>A (p.Ala1860Thr)

SNV
Germline

Chr5:90681368

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3339622

rs_369603835

2 SubmittersRCV000389889

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_032119.4(ADGRV1):c.11122-2A>G

SNV
Germline

Chr5:90753572

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA16042615

rs_1057517741

1 SubmittersRCV000413287

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_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.17235T>G (p.Tyr5745Ter)

SNV
Germline

Chr5:90853314

Pathogenic/Likely pathogenic

Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16603198

rs_1057520080

2 SubmittersRCV000417723

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_032119.4(ADGRV1):c.16436A>G (p.Asn5479Ser)

SNV
Germline

Chr5:90829011

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3342155

rs_368738607

3 SubmittersRCV001054812 RCV004022451

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_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_032119.4(ADGRV1):c.14366G>A (p.Arg4789Gln)

SNV
Germline

Chr5:90791195

Pathogenic/Likely pathogenic

Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3341713

rs_765849229

2 SubmittersRCV000482131

NM_032119.4(ADGRV1):c.14975C>G (p.Ser4992Ter)

SNV
Germline

Chr5:90810235

Pathogenic/Likely pathogenic

Condition: not provided
ADGRV1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA16618223

rs_900228710

3 SubmittersRCV000486698 RCV003323562

NM_032119.4(ADGRV1):c.442T>C (p.Ser148Pro)

SNV
Germline

Chr5:90619170

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3338464

rs_769994130

2 SubmittersRCV000487988

NM_032119.4(ADGRV1):c.17621A>G (p.Lys5874Arg)

SNV
Germline

Chr5:90855767

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3342405

rs_199516167

2 SubmittersRCV000487764

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_032119.4(ADGRV1):c.9661G>A (p.Val3221Met)

SNV
Germline

Chr5:90720972

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA3340570

rs_368092861

3 SubmittersRCV000492811 RCV001075228

NM_032119.4(ADGRV1):c.14365C>T (p.Arg4789Trp)

SNV
Germline

Chr5:90791194

Conflicting classifications of pathogenicity

Condition: not provided
Rare genetic deafness
Retinal dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA360401651

rs_1131691924

6 SubmittersRCV000493267 RCV000609544 RCV001073322 RCV004767303

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_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_032119.4(ADGRV1):c.17276A>G (p.Asn5759Ser)

SNV
Germline

Chr5:90853355

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3342339

rs_375445058

2 SubmittersRCV000507340 RCV003698794

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_032119.4(ADGRV1):c.17987G>T (p.Trp5996Leu)

SNV
Germline

Chr5:90985357

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3342531

rs_544077645

5 SubmittersRCV000514645 RCV001075116 RCV004609417

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_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_032119.4(ADGRV1):c.17613G>A (p.Gln5871=)

SNV
Germline

Chr5:90855759

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3342404

rs_371091564

3 SubmittersRCV000825104 RCV000591554

NM_032119.4(ADGRV1):c.5835G>A (p.Lys1945=)

SNV
Germline

Chr5:90683756

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3339674

rs_569899625

2 SubmittersRCV000591109

NM_032119.4(ADGRV1):c.17349A>G (p.Ala5783=)

SNV
Germline

Chr5:90853428

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3342348

rs_747992951

2 SubmittersRCV000596260

NM_032119.4(ADGRV1):c.13654-7C>T

SNV
Germline

Chr5:90788064

Conflicting classifications of pathogenicity

Condition: not provided
ADGRV1-related disorder

Criteria Provided
Conflicting Classifications

CA3341581

rs_373551551

3 SubmittersRCV000593152 RCV004737862

NM_032119.4(ADGRV1):c.8791A>G (p.Met2931Val)

SNV
Germline

Chr5:90708876

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA360393567

rs_1250073917

3 SubmittersRCV000595560

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_032119.4(ADGRV1):c.12682A>G (p.Ile4228Val)

SNV
Germline

Chr5:90778442

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA3341317

rs_532836800

4 SubmittersRCV000591249 RCV004609448 RCV005056259

NM_032119.4(ADGRV1):c.10051C>T (p.Leu3351=)

SNV
Germline

Chr5:90725230

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA445468676

rs_1445890457

2 SubmittersRCV000595445

NM_032119.4(ADGRV1):c.3563T>C (p.Ile1188Thr)

SNV
Germline

Chr5:90652492

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3339204

rs_368562997

2 SubmittersRCV000593656

NM_032119.4(ADGRV1):c.10322G>C (p.Gly3441Ala)

SNV
Germline

Chr5:90728829

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3340727

rs_200464486

4 SubmittersRCV000593274 RCV005318443

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_032119.4(ADGRV1):c.17388G>A (p.Gln5796=)

SNV
Germline

Chr5:90853467

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3342355

rs_183208875

2 SubmittersRCV000595973

NM_032119.4(ADGRV1):c.18879C>T (p.Ile6293=)

SNV
Germline

Chr5:91163858

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3342767

rs_372350188

5 SubmittersRCV000710439

NM_032119.4(ADGRV1):c.17794A>C (p.Arg5932=)

SNV
Germline

Chr5:90863795

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3342457

rs_747728554

2 SubmittersRCV000594070

NM_032119.4(ADGRV1):c.2543G>A (p.Gly848Glu)

SNV
Germline

Chr5:90643031

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA121834441

rs_959132080

3 SubmittersRCV000591486 RCV002532570

NM_032119.4(ADGRV1):c.12823C>T (p.Gln4275Ter)

SNV
Germline

Chr5:90778583

Pathogenic

Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3341340

rs_768589991

2 SubmittersRCV000594440

NM_032119.4(ADGRV1):c.754A>G (p.Ile252Val)

SNV
Germline

Chr5:90627292

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA360365661

rs_1299020576

4 SubmittersRCV000595980 RCV005318446

NM_032119.4(ADGRV1):c.17869G>A (p.Ala5957Thr)

SNV
Germline

Chr5:90965427

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3342493

rs_765800403

3 SubmittersRCV000593378 RCV002532655

NM_032119.4(ADGRV1):c.13130C>A (p.Pro4377His)

SNV
Germline

Chr5:90781477

Conflicting classifications of pathogenicity

Condition: not provided
ADGRV1-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3341445

rs_542081391

4 SubmittersRCV000597338 RCV004737877 RCV005318448

NM_032119.4(ADGRV1):c.12778G>T (p.Val4260Leu)

SNV
Germline

Chr5:90778538

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3341330

rs_773072116

5 SubmittersRCV000594094 RCV004586825 RCV004975708

NM_032119.4(ADGRV1):c.18229G>A (p.Val6077Met)

SNV
Germline

Chr5:91072523

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3342598

rs_762746997

2 SubmittersRCV000593568

NM_032119.4(ADGRV1):c.2538G>A (p.Leu846=)

SNV
Germline

Chr5:90643026

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3338954

rs_375415491

2 SubmittersRCV000597454

NM_032119.4(ADGRV1):c.6290G>A (p.Arg2097His)

SNV
Germline

Chr5:90685795

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA360362722

rs_572910896

3 SubmittersRCV000591847 RCV002532674

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_032119.4(ADGRV1):c.2302G>T (p.Glu768Ter)

SNV
Germline

Chr5:90642697

Pathogenic

Rare genetic deafness

Criteria Provided
Single Submitter

CA360387381

rs_1554068885

1 SubmittersRCV000605491

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.3943C>A (p.Gln1315Lys)

SNV
Germline

Chr5:90653517

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3339264

rs_764685377

2 SubmittersRCV000602861 RCV001854133

NM_032119.4(ADGRV1):c.9918A>G (p.Ile3306Met)

SNV
Germline

Chr5:90725097

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA360402828

rs_1264693693

2 SubmittersRCV000601339 RCV001860343

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.13600A>G (p.Met4534Val)

SNV
Germline

Chr5:90784004

Conflicting classifications of pathogenicity

not specified
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3341561

rs_761667882

3 SubmittersRCV000609366 RCV004619351 RCV003767453

NM_032119.4(ADGRV1):c.15719C>T (p.Thr5240Ile)

SNV
Germline

Chr5:90810979

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3341968

rs_768299251

3 SubmittersRCV000615108 RCV002509465

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.929G>A (p.Gly310Glu)

SNV
Germline

Chr5:90627467

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3338582

rs_766790920

3 SubmittersRCV000611584 RCV001038199

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_032119.4(ADGRV1):c.14496C>A (p.Asp4832Glu)

SNV
Germline

Chr5:90791325

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA3341739

rs_753803615

3 SubmittersRCV003767461 RCV004024902 RCV000605661

NM_032119.4(ADGRV1):c.14719G>A (p.Val4907Ile)

SNV
Germline

Chr5:90805341

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3341795

rs_373391623

3 SubmittersRCV000613755 RCV001227797 RCV004975709

NM_032119.4(ADGRV1):c.968T>C (p.Ile323Thr)

SNV
Germline

Chr5:90627506

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3338588

rs_757910491

2 SubmittersRCV000606227 RCV003698799

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.5969T>C (p.Val1990Ala)

SNV
Germline

Chr5:90683890

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Hearing impairment

Criteria Provided
Conflicting Classifications

CA3339693

rs_376559614

3 SubmittersRCV002529339 RCV000599806 RCV001375441

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.8198G>T (p.Arg2733Leu)

SNV
Germline

Chr5:90703707

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA360388828

rs_749383906

2 SubmittersRCV000606270 RCV001860253

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.14575G>A (p.Gly4859Ser)

SNV
Germline

Chr5:90802796

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3341761

rs_747275713

2 SubmittersRCV002529358 RCV000613973

NM_032119.4(ADGRV1):c.16190C>T (p.Pro5397Leu)

SNV
Germline

Chr5:90815730

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA122824820

rs_998194428

2 SubmittersRCV002529310 RCV000613349

NM_032119.4(ADGRV1):c.16447T>C (p.Phe5483Leu)

SNV
Germline

Chr5:90829022

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3342159

rs_376863164

3 SubmittersRCV001327498 RCV000613469

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.18125A>G (p.Gln6042Arg)

SNV
Germline

Chr5:90985495

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3342559

rs_764963960

2 SubmittersRCV000613842 RCV003767743

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.838A>T (p.Ile280Leu)

SNV
Germline

Chr5:90627376

Conflicting classifications of pathogenicity

not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3338573

rs_772896545

2 SubmittersRCV000601945 RCV004025020

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_032119.4(ADGRV1):c.6275-9G>T

SNV
Germline

Chr5:90685771

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA560896532

rs_1206365367

2 SubmittersRCV000601462 RCV002060630

NM_032119.4(ADGRV1):c.7907A>G (p.Asp2636Gly)

SNV
Germline

Chr5:90694663

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3340110

rs_770468449

3 SubmittersRCV001854139 RCV000607108 RCV005318450

NM_032119.4(ADGRV1):c.9054T>G (p.Phe3018Leu)

SNV
Germline

Chr5:90712298

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3340437

rs_186975400

3 SubmittersRCV000604616 RCV001227016

NM_032119.4(ADGRV1):c.9557C>A (p.Thr3186Asn)

SNV
Germline

Chr5:90720157

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3340532

rs_201511311

2 SubmittersRCV000608521 RCV003767456

NM_032119.4(ADGRV1):c.10768A>T (p.Ser3590Cys)

SNV
Germline

Chr5:90745264

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3340815

rs_183319660

4 SubmittersRCV001245971 RCV000614895

NM_032119.4(ADGRV1):c.10873C>G (p.Leu3625Val)

SNV
Germline

Chr5:90745694

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA3340843

rs_761066341

4 SubmittersRCV000613546 RCV001350482 RCV001075454

NM_032119.4(ADGRV1):c.17857-11G>A

SNV
Germline

Chr5:90965404

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA658796550

rs_918520562

2 SubmittersRCV000613078 RCV003767438

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_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_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_032119.4(ADGRV1):c.4786G>A (p.Val1596Ile)

SNV
Germline

Chr5:90672579

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3339414

rs_371179945

3 SubmittersRCV000710449

NM_032119.4(ADGRV1):c.12979G>A (p.Gly4327Arg)

SNV
Germline

Chr5:90778994

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA360389742

rs_1251839466

3 SubmittersRCV000710429 RCV004972908

NM_032119.4(ADGRV1):c.1254A>G (p.Thr418=)

SNV
Germline

Chr5:90628577

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA445465305

rs_1315101894

2 SubmittersRCV000727888

NM_032119.4(ADGRV1):c.14928C>T (p.His4976=)

SNV
Germline

Chr5:90807693

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA445416801

rs_1251473317

2 SubmittersRCV000728065

NM_032119.4(ADGRV1):c.6524T>C (p.Val2175Ala)

SNV
Germline

Chr5:90689894

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA3339820

rs_771811961

4 SubmittersRCV000728515 RCV004026946 RCV004768613

NM_032119.4(ADGRV1):c.5784C>T (p.Ser1928=)

SNV
Germline

Chr5:90683705

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3339661

rs_199605700

2 SubmittersRCV000728601

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.2735-8T>C

SNV
Germline

Chr5:90644698

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA561259662

rs_1181016921

2 SubmittersRCV000729915

NM_032119.4(ADGRV1):c.14304G>A (p.Ser4768=)

SNV
Germline

Chr5:90791133

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3341704

rs_373822878

2 SubmittersRCV000730226

NM_032119.4(ADGRV1):c.18782T>C (p.Leu6261Ser)

SNV
Germline

Chr5:91153378

Conflicting classifications of pathogenicity

Condition: not provided
ADGRV1-related disorder

Criteria Provided
Conflicting Classifications

CA3342735

rs_557331348

4 SubmittersRCV000730423 RCV005431905

NM_032119.4(ADGRV1):c.2885C>G (p.Ser962Cys)

SNV
Germline

Chr5:90644856

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3339034

rs_759360751

2 SubmittersRCV000731062

NM_032119.4(ADGRV1):c.1210G>A (p.Val404Ile)

SNV
Germline

Chr5:90627748

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3338625

rs_780748586

2 SubmittersRCV000731063

NM_032119.4(ADGRV1):c.1801G>T (p.Asp601Tyr)

SNV
Germline

Chr5:90629501

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3338751

rs_375085032

2 SubmittersRCV000731549

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_032119.4(ADGRV1):c.600A>G (p.Pro200=)

SNV
Germline

Chr5:90625171

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3338513

rs_776978539

2 SubmittersRCV000732177

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_032119.4(ADGRV1):c.1189A>G (p.Ser397Gly)

SNV
Germline

Chr5:90627727

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3338623

rs_377201437

2 SubmittersRCV000733422

NM_032119.4(ADGRV1):c.6859G>A (p.Val2287Ile)

SNV
Germline

Chr5:90690949

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA122797042

rs_868801998

2 SubmittersRCV000733909

NM_032119.4(ADGRV1):c.12373A>G (p.Ile4125Val)

SNV
Germline

Chr5:90774273

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3341227

rs_766991551

3 SubmittersRCV000734483 RCV003258956

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_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_032119.4(ADGRV1):c.1094A>G (p.Asp365Gly)

SNV
Germline

Chr5:90627632

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3338612

rs_779719772

2 SubmittersRCV000755793

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_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_032119.4(ADGRV1):c.12222G>A (p.Trp4074Ter)

SNV
Germline

Chr5:90763406

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360378190

rs_1366388721

1 SubmittersRCV003768449

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_032119.4(ADGRV1):c.4379-1G>A

SNV
Germline

Chr5:90657904

Likely pathogenic

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Single Submitter

CA360403420

rs_1432643009

2 SubmittersRCV000787529 RCV001869188

NM_032119.4(ADGRV1):c.3978T>A (p.Asp1326Glu)

SNV
Germline

Chr5:90653552

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3339276

rs_546224817

3 SubmittersRCV000825860 RCV002067425

NM_032119.4(ADGRV1):c.4771A>G (p.Thr1591Ala)

SNV
Germline

Chr5:90672564

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3339412

rs_775471701

2 SubmittersRCV000825861 RCV001371307

NM_032119.4(ADGRV1):c.5104C>T (p.Pro1702Ser)

SNV
Germline

Chr5:90674228

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3339476

rs_535038304

2 SubmittersRCV000825858 RCV001063746

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.5892T>C (p.Asn1964=)

SNV
Germline

Chr5:90683813

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3339683

rs_201983595

3 SubmittersRCV000825094 RCV001430975

NM_032119.4(ADGRV1):c.6029A>G (p.Lys2010Arg)

SNV
Germline

Chr5:90683950

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3339697

rs_774354351

2 SubmittersRCV000825276 RCV001856267

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.8620C>T (p.Gln2874Ter)

SNV
Germline

Chr5:90706284

Pathogenic

Rare genetic deafness
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA360391975

rs_758834029

2 SubmittersRCV000825556 RCV001237241

NM_032119.4(ADGRV1):c.12613T>G (p.Ser4205Ala)

SNV
Germline

Chr5:90777990

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3341294

rs_746448681

3 SubmittersRCV000825859 RCV001233771 RCV005550061

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_032119.4(ADGRV1):c.564G>T (p.Glu188Asp)

SNV
Germline

Chr5:90625135

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3338506

rs_377529304

3 SubmittersRCV000826326 RCV002538247

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.4264A>G (p.Ser1422Gly)

SNV
Germline

Chr5:90653838

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3339312

rs_377136573

3 SubmittersRCV002536082 RCV000826329

NM_032119.4(ADGRV1):c.7155G>T (p.Leu2385=)

SNV
Germline

Chr5:90693911

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3339987

rs_369886529

2 SubmittersRCV000840707

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_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_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_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_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.15113T>C (p.Ile5038Thr)

SNV
Germline

Chr5:90810373

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
ADGRV1-related disorder

Criteria Provided
Conflicting Classifications

CA3341871

rs_192561791

5 SubmittersRCV000895852 RCV002539439 RCV004551684

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.17657C>A (p.Ala5886Asp)

SNV
Germline

Chr5:90855803

Conflicting classifications of pathogenicity

Condition: not provided
ADGRV1-related disorder

Criteria Provided
Conflicting Classifications

CA3342411

rs_201254386

3 SubmittersRCV000900411 RCV004738067

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_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_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_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_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_032119.4(ADGRV1):c.12511G>T (p.Gly4171Cys)

SNV
Germline

Chr5:90776560

Likely pathogenic

ADGRV1-related myoclonic epilepsy

Criteria Provided
Single Submitter

CA360386085

rs_1581088032

1 SubmittersRCV000991205

NM_032119.4(ADGRV1):c.2800C>G (p.Pro934Ala)

SNV
Germline

Chr5:90644771

Conflicting classifications of pathogenicity

Condition: not provided
ADGRV1-related disorder

Criteria Provided
Conflicting Classifications

CA3339022

rs_149600158

3 SubmittersRCV000991486 RCV004553531

NM_032119.4(ADGRV1):c.6728T>C (p.Ile2243Thr)

SNV
Germline

Chr5:90690818

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA122797038

rs_1050561499

2 SubmittersRCV000991488

NM_032119.4(ADGRV1):c.7007G>A (p.Arg2336Gln)

SNV
Germline

Chr5:90692660

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3339949

rs_755180090

2 SubmittersRCV000991489

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.14632C>T (p.Pro4878Ser)

SNV
Germline

Chr5:90802853

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3341771

rs_201072069

4 SubmittersRCV000991484 RCV004030122

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_032119.4(ADGRV1):c.2660A>G (p.His887Arg)

SNV
Germline

Chr5:90643909

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3338981

rs_560889543

3 SubmittersRCV000998403 RCV004973237

NM_032119.4(ADGRV1):c.5560A>G (p.Ile1854Val)

SNV
Germline

Chr5:90681350

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3339616

rs_758419783

2 SubmittersRCV000998404

NM_032119.4(ADGRV1):c.18831A>G (p.Glu6277=)

SNV
Germline

Chr5:91163810

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3342758

rs_549421635

2 SubmittersRCV000998408

NM_032119.4(ADGRV1):c.1684G>T (p.Ala562Ser)

SNV
Germline

Chr5:90629384

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3338734

rs_199636312

3 SubmittersRCV001000689 RCV001359171

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_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_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_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_032119.4(ADGRV1):c.1978A>G (p.Ile660Val)

SNV
Germline

Chr5:90635252

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3338792

rs_776952851

2 SubmittersRCV001042783 RCV002553090

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.5156C>T (p.Ala1719Val)

SNV
Germline

Chr5:90675288

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3339507

rs_376126357

2 SubmittersRCV001053302

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.5408C>A (p.Ser1803Tyr)

SNV
Germline

Chr5:90676174

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
ADGRV1-related disorder

Criteria Provided
Conflicting Classifications

CA3339559

rs_371348667

4 SubmittersRCV001063737 RCV004030509 RCV004738146

NM_032119.4(ADGRV1):c.5776C>T (p.Gln1926Ter)

SNV
Germline

Chr5:90683697

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360413361

rs_1449286135

1 SubmittersRCV001041388

NM_032119.4(ADGRV1):c.5784C>G (p.Ser1928Arg)

SNV
Germline

Chr5:90683705

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3339660

rs_199605700

4 SubmittersRCV001058124 RCV001073946 RCV004031836

NM_032119.4(ADGRV1):c.6119A>G (p.Tyr2040Cys)

SNV
Germline

Chr5:90684040

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3339711

rs_374889159

2 SubmittersRCV001053303

NM_032119.4(ADGRV1):c.6262C>T (p.Gln2088Ter)

SNV
Germline

Chr5:90684183

Pathogenic

Condition: not provided
Retinal dystrophy

Criteria Provided
Single Submitter

CA360414478

rs_1745312538

2 SubmittersRCV001067675 RCV004813698

NM_032119.4(ADGRV1):c.6326T>C (p.Ile2109Thr)

SNV
Germline

Chr5:90685831

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3339757

rs_369891542

4 SubmittersRCV001066837 RCV004977984

NM_032119.4(ADGRV1):c.6332T>C (p.Ile2111Thr)

SNV
Germline

Chr5:90685837

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3339759

rs_776199730

3 SubmittersRCV001052954 RCV005562542

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.6844A>G (p.Thr2282Ala)

SNV
Germline

Chr5:90690934

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3339884

rs_369212457

2 SubmittersRCV001053304

NM_032119.4(ADGRV1):c.7540C>G (p.Gln2514Glu)

SNV
Germline

Chr5:90694296

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3340051

rs_773304993

2 SubmittersRCV001063675 RCV004977972

NM_032119.4(ADGRV1):c.7753A>G (p.Ile2585Val)

SNV
Germline

Chr5:90694509

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3340085

rs_757369145

2 SubmittersRCV001044091 RCV004973276

NM_032119.4(ADGRV1):c.9820A>G (p.Thr3274Ala)

SNV
Germline

Chr5:90724903

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3340599

rs_757193884

2 SubmittersRCV001055981 RCV004977945

NM_032119.4(ADGRV1):c.10150G>A (p.Glu3384Lys)

SNV
Germline

Chr5:90725645

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3340675

rs_371240064

2 SubmittersRCV001047106 RCV002553158

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.11725C>A (p.Pro3909Thr)

SNV
Germline

Chr5:90756598

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3341029

rs_745891354

2 SubmittersRCV001066676 RCV003160549

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.12369A>G (p.Ile4123Met)

SNV
Germline

Chr5:90774269

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3341226

rs_202228562

3 SubmittersRCV001057208 RCV004031802

NM_032119.4(ADGRV1):c.12688G>A (p.Glu4230Lys)

SNV
Germline

Chr5:90778448

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3341318

rs_777661211

3 SubmittersRCV001064502 RCV005550121

NM_032119.4(ADGRV1):c.13172T>C (p.Met4391Thr)

SNV
Germline

Chr5:90781519

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3341454

rs_745578837

2 SubmittersRCV001041545

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_032119.4(ADGRV1):c.14069T>G (p.Phe4690Cys)

SNV
Germline

Chr5:90790898

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3341665

rs_760733336

2 SubmittersRCV002551459 RCV001039972

NM_032119.4(ADGRV1):c.14224G>A (p.Glu4742Lys)

SNV
Germline

Chr5:90791053

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3341692

rs_372362723

3 SubmittersRCV001053300 RCV002553754

NM_032119.4(ADGRV1):c.14605C>T (p.Leu4869Phe)

SNV
Germline

Chr5:90802826

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3341766

rs_371563402

3 SubmittersRCV001053301 RCV003160423

NM_032119.4(ADGRV1):c.15415G>C (p.Glu5139Gln)

SNV
Germline

Chr5:90810675

Conflicting classifications of pathogenicity

Condition: not provided
Febrile seizures, familial, 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3341916

rs_776241274

3 SubmittersRCV001039795 RCV001839027 RCV003346268

NM_032119.4(ADGRV1):c.15737G>A (p.Arg5246Gln)

SNV
Germline

Chr5:90810997

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3341973

rs_772037044

3 SubmittersRCV001063918 RCV004977973

NM_032119.4(ADGRV1):c.15737G>T (p.Arg5246Leu)

SNV
Germline

Chr5:90810997

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3341972

rs_772037044

3 SubmittersRCV001040620 RCV005318575

NM_032119.4(ADGRV1):c.16912C>A (p.Pro5638Thr)

SNV
Germline

Chr5:90840878

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3342248

rs_768262653

2 SubmittersRCV001060648 RCV004609603

NM_032119.4(ADGRV1):c.8155+1G>A

SNV
Germline

Chr5:90697147

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360386848

rs_1179484173

1 SubmittersRCV001070438

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.4880T>C (p.Phe1627Ser)

SNV
Germline

Chr5:90672673

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3339429

rs_367588475

3 SubmittersRCV001862550 RCV001074290 RCV005550128

NM_032119.4(ADGRV1):c.5042G>C (p.Ser1681Thr)

SNV
Germline

Chr5:90674166

Conflicting classifications of pathogenicity

Retinal dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3339469

rs_781456737

2 SubmittersRCV001074478 RCV003565450

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.8749G>T (p.Glu2917Ter)

SNV
Germline

Chr5:90708834

Likely pathogenic

Retinal dystrophy

Criteria Provided
Single Submitter

CA360393385

rs_1748947002

1 SubmittersRCV001074207

NM_032119.4(ADGRV1):c.12497C>G (p.Ser4166Ter)

SNV
Germline

Chr5:90776546

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3341260

rs_778188580

2 SubmittersRCV001073722 RCV001862517

NM_032119.4(ADGRV1):c.13772C>T (p.Thr4591Ile)

SNV
Germline

Chr5:90788189

Conflicting classifications of pathogenicity

Retinal dystrophy
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3341609

rs_369108080

5 SubmittersRCV001073997 RCV001195220 RCV001306737

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_032119.4(ADGRV1):c.9906+1G>A

SNV
Germline

Chr5:90724990

Pathogenic

Retinal dystrophy

Criteria Provided
Single Submitter

CA360402790

rs_1751572548

1 SubmittersRCV001074338

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_032119.4(ADGRV1):c.14837-8T>C

SNV
Germline

Chr5:90807594

Conflicting classifications of pathogenicity

Retinal dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA916082742

rs_1762025160

2 SubmittersRCV001074949 RCV001452217

NM_032119.4(ADGRV1):c.1608C>A (p.Tyr536Ter)

SNV
Germline

Chr5:90629308

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360373612

rs_1561416879

1 SubmittersRCV001091920

NM_032119.4(ADGRV1):c.2790G>A (p.Trp930Ter)

SNV
Germline

Chr5:90644761

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360390639

rs_1767488078

1 SubmittersRCV001092759

NM_032119.4(ADGRV1):c.12895C>T (p.Arg4299Ter)

SNV
Germline

Chr5:90778910

Pathogenic

Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3341374

rs_756954694

2 SubmittersRCV001092760

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_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_032119.4(ADGRV1):c.4373C>G (p.Thr1458Ser)

SNV
Germline

Chr5:90653947

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA121840053

rs_562424836

3 SubmittersRCV001195221 RCV003770191

NM_032119.4(ADGRV1):c.6578T>C (p.Ile2193Thr)

SNV
Germline

Chr5:90689948

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Inborn genetic diseases
ADGRV1-related disorder

Criteria Provided
Conflicting Classifications

CA3339831

rs_201999622

4 SubmittersRCV001195222 RCV002561029 RCV004033453 RCV004738184

NM_032119.4(ADGRV1):c.4463G>A (p.Arg1488Gln)

SNV
Germline

Chr5:90657989

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3339355

rs_748876967

2 SubmittersRCV001221023

NM_032119.4(ADGRV1):c.4868T>G (p.Leu1623Arg)

SNV
Germline

Chr5:90672661

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3339424

rs_751133155

2 SubmittersRCV001220426

NM_032119.4(ADGRV1):c.8469T>G (p.His2823Gln)

SNV
Germline

Chr5:90705482

Conflicting classifications of pathogenicity

Condition: not provided
Febrile seizures, familial, 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3340270

rs_188452841

5 SubmittersRCV001219509 RCV001334324 RCV004609670

NM_032119.4(ADGRV1):c.11687T>A (p.Met3896Lys)

SNV
Germline

Chr5:90756560

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA360369550

rs_1246088013

2 SubmittersRCV001217625

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.6044A>T (p.Tyr2015Phe)

SNV
Germline

Chr5:90683965

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3339699

rs_766508393

2 SubmittersRCV001204363

NM_032119.4(ADGRV1):c.8291C>G (p.Ser2764Trp)

SNV
Germline

Chr5:90704393

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3340225

rs_16869016

2 SubmittersRCV001210884

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_032119.4(ADGRV1):c.9189A>C (p.Leu3063Phe)

SNV
Germline

Chr5:90716471

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3340464

rs_201401085

2 SubmittersRCV001201611 RCV002561082

NM_032119.4(ADGRV1):c.9736G>A (p.Ala3246Thr)

SNV
Germline

Chr5:90721047

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA360401111

rs_1440842317

2 SubmittersRCV001209872 RCV005318648

NM_032119.4(ADGRV1):c.11018T>C (p.Leu3673Pro)

SNV
Germline

Chr5:90750594

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3340881

rs_761061042

2 SubmittersRCV001204421 RCV004033617

NM_032119.4(ADGRV1):c.11188G>T (p.Glu3730Ter)

SNV
Germline

Chr5:90753640

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360364647

rs_1755509433

1 SubmittersRCV001201682

NM_032119.4(ADGRV1):c.11339G>A (p.Arg3780His)

SNV
Germline

Chr5:90753791

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3340945

rs_375613551

3 SubmittersRCV001212109 RCV004609665

NM_032119.4(ADGRV1):c.13450A>G (p.Ile4484Val)

SNV
Germline

Chr5:90783854

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA122809439

rs_990935995

2 SubmittersRCV001214187 RCV002561839

NM_032119.4(ADGRV1):c.13757A>G (p.Glu4586Gly)

SNV
Germline

Chr5:90788174

Conflicting classifications of pathogenicity

Condition: not provided
See cases

Criteria Provided
Conflicting Classifications

CA3341603

rs_371917393

3 SubmittersRCV001204187 RCV002252329

NM_032119.4(ADGRV1):c.14253G>C (p.Trp4751Cys)

SNV
Germline

Chr5:90791082

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3341697

rs_200519702

2 SubmittersRCV001214026 RCV005550181

NM_032119.4(ADGRV1):c.15440A>G (p.Asp5147Gly)

SNV
Germline

Chr5:90810700

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3341923

rs_766519183

2 SubmittersRCV001202720

NM_032119.4(ADGRV1):c.15701A>G (p.Lys5234Arg)

SNV
Germline

Chr5:90810961

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3341965

rs_138975725

2 SubmittersRCV001212486 RCV003246761

NM_032119.4(ADGRV1):c.15973C>A (p.Gln5325Lys)

SNV
Germline

Chr5:90811233

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3342014

rs_767603980

2 SubmittersRCV001205301 RCV003246753

NM_032119.4(ADGRV1):c.17896G>A (p.Ala5966Thr)

SNV
Germline

Chr5:90965454

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3342500

rs_200380522

2 SubmittersRCV001207559

NM_032119.4(ADGRV1):c.18209C>T (p.Thr6070Met)

SNV
Germline

Chr5:91072503

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3342591

rs_776008411

3 SubmittersRCV001202902 RCV005328574

NM_032119.4(ADGRV1):c.1015G>C (p.Glu339Gln)

SNV
Germline

Chr5:90627553

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3338597

rs_767567119

2 SubmittersRCV001232286 RCV003365274

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.4985G>A (p.Arg1662His)

SNV
Germline

Chr5:90674109

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3339456

rs_193222107

2 SubmittersRCV001235708

NM_032119.4(ADGRV1):c.5242G>T (p.Gly1748Ter)

SNV
Germline

Chr5:90675374

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA122799544

rs_918660998

1 SubmittersRCV001226973

NM_032119.4(ADGRV1):c.6521T>C (p.Val2174Ala)

SNV
Germline

Chr5:90689891

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3339819

rs_368228246

2 SubmittersRCV001231319 RCV005550203

NM_032119.4(ADGRV1):c.10475C>T (p.Ser3492Phe)

SNV
Germline

Chr5:90729690

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3340755

rs_375619656

2 SubmittersRCV001236881

NM_032119.4(ADGRV1):c.12697A>C (p.Ser4233Arg)

SNV
Germline

Chr5:90778457

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3341320

rs_770802961

3 SubmittersRCV001233832 RCV004033216

NM_032119.4(ADGRV1):c.13448C>G (p.Pro4483Arg)

SNV
Germline

Chr5:90783852

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3341531

rs_534449869

3 SubmittersRCV001236642 RCV004609691

NM_032119.4(ADGRV1):c.15884A>T (p.Glu5295Val)

SNV
Germline

Chr5:90811144

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3342000

rs_766907011

4 SubmittersRCV001237888 RCV004609695

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_032119.4(ADGRV1):c.1217T>C (p.Ile406Thr)

SNV
Germline

Chr5:90627755

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3338628

rs_779851711

2 SubmittersRCV001243624 RCV002564069

NM_032119.4(ADGRV1):c.4871T>C (p.Val1624Ala)

SNV
Germline

Chr5:90672664

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3339426

rs_376895610

2 SubmittersRCV001247619 RCV003294154

NM_032119.4(ADGRV1):c.5186A>G (p.His1729Arg)

SNV
Germline

Chr5:90675318

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3339513

rs_375786151

2 SubmittersRCV001240642 RCV004609698

NM_032119.4(ADGRV1):c.5260A>G (p.Thr1754Ala)

SNV
Germline

Chr5:90675392

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3339523

rs_201186767

3 SubmittersRCV001243653 RCV002568569

NM_032119.4(ADGRV1):c.10924A>G (p.Ile3642Val)

SNV
Germline

Chr5:90745745

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3340848

rs_376682480

2 SubmittersRCV001247301 RCV005550224

NM_032119.4(ADGRV1):c.11827C>G (p.Arg3943Gly)

SNV
Germline

Chr5:90757048

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3341060

rs_762677981

2 SubmittersRCV001240779 RCV002563980

NM_032119.4(ADGRV1):c.12261G>T (p.Leu4087Phe)

SNV
Germline

Chr5:90763445

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3341183

rs_771000002

2 SubmittersRCV001246764 RCV004034872

NM_032119.4(ADGRV1):c.13495C>T (p.Arg4499Cys)

SNV
Germline

Chr5:90783899

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3341539

rs_567519802

3 SubmittersRCV001241208 RCV005432626

NM_032119.4(ADGRV1):c.16225C>T (p.Arg5409Ter)

SNV
Germline

Chr5:90823453

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA3342088

rs_199806093

3 SubmittersRCV001243420 RCV004813993

NM_032119.4(ADGRV1):c.16375C>T (p.Gln5459Ter)

SNV
Germline

Chr5:90828950

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360426630

rs_1764293109

1 SubmittersRCV001244077

NM_032119.4(ADGRV1):c.11581-2A>G

SNV
Germline

Chr5:90756452

Likely pathogenic

Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA360367781

rs_1204470864

2 SubmittersRCV001237100

NM_032119.4(ADGRV1):c.12286-10T>C

SNV
Germline

Chr5:90774176

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3341206

rs_368395113

2 SubmittersRCV001232358 RCV005057131

NM_032119.4(ADGRV1):c.12850-1G>T

SNV
Germline

Chr5:90778864

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360388847

rs_1758546944

1 SubmittersRCV001228348

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_032119.4(ADGRV1):c.6856C>T (p.Arg2286Ter)

SNV
Germline

Chr5:90690946

Pathogenic

Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA360368365

rs_1746388061

2 SubmittersRCV001268196

NM_032119.4(ADGRV1):c.2173A>G (p.Ile725Val)

SNV
Germline

Chr5:90637881

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3338848

rs_773629275

2 SubmittersRCV001303500 RCV002543100

NM_032119.4(ADGRV1):c.2185A>G (p.Ile729Val)

SNV
Germline

Chr5:90637893

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3338849

rs_760206426

2 SubmittersRCV001294432

NM_032119.4(ADGRV1):c.3212G>A (p.Ser1071Asn)

SNV
Germline

Chr5:90647687

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3339125

rs_752410892

5 SubmittersRCV001297601 RCV004036075

NM_032119.4(ADGRV1):c.3416G>T (p.Trp1139Leu)

SNV
Germline

Chr5:90651730

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360396065

rs_1768655161

1 SubmittersRCV001305697

NM_032119.4(ADGRV1):c.4040C>T (p.Ser1347Phe)

SNV
Germline

Chr5:90653614

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3339283

rs_371266358

2 SubmittersRCV001308404 RCV002545015

NM_032119.4(ADGRV1):c.4472C>T (p.Thr1491Met)

SNV
Germline

Chr5:90657998

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3339356

rs_138373307

2 SubmittersRCV001298501

NM_032119.4(ADGRV1):c.4585G>T (p.Ala1529Ser)

SNV
Germline

Chr5:90658111

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA360404212

rs_1314218838

3 SubmittersRCV001300173 RCV005318712

NM_032119.4(ADGRV1):c.6254C>T (p.Ala2085Val)

SNV
Germline

Chr5:90684175

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3339736

rs_763204750

2 SubmittersRCV001296430 RCV002538466

NM_032119.4(ADGRV1):c.12935G>A (p.Gly4312Asp)

SNV
Germline

Chr5:90778950

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3341383

rs_771225820

2 SubmittersRCV001302974 RCV002543096

NM_032119.4(ADGRV1):c.13016A>T (p.Asp4339Val)

SNV
Germline

Chr5:90779031

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA360389917

rs_770168462

2 SubmittersRCV001301424 RCV004609736

NM_032119.4(ADGRV1):c.16313C>T (p.Thr5438Ile)

SNV
Germline

Chr5:90823541

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3342113

rs_745477465

4 SubmittersRCV001302894

NM_032119.4(ADGRV1):c.16999A>T (p.Met5667Leu)

SNV
Germline

Chr5:90840965

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3342263

rs_201767389

3 SubmittersRCV001300062 RCV004699288

NM_032119.4(ADGRV1):c.17891A>C (p.Gln5964Pro)

SNV
Germline

Chr5:90965449

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3342499

rs_368705652

2 SubmittersRCV001298857

NM_032119.4(ADGRV1):c.18110A>G (p.His6037Arg)

SNV
Germline

Chr5:90985480

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA360429321

rs_1366839984

2 SubmittersRCV001299445 RCV005550244

NM_032119.4(ADGRV1):c.18422A>G (p.Asn6141Ser)

SNV
Germline

Chr5:91102330

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3342640

rs_371895540

2 SubmittersRCV001303486

NM_032119.4(ADGRV1):c.1567A>G (p.Met523Val)

SNV
Germline

Chr5:90629267

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3338719

rs_190835338

2 SubmittersRCV001316601 RCV005318736

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.3838G>A (p.Asp1280Asn)

SNV
Germline

Chr5:90653412

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA3339247

rs_184031236

3 SubmittersRCV001323148 RCV004815375

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.4429A>G (p.Thr1477Ala)

SNV
Germline

Chr5:90657955

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3339351

rs_202097968

4 SubmittersRCV001323348

NM_032119.4(ADGRV1):c.6938C>T (p.Pro2313Leu)

SNV
Germline

Chr5:90691028

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3339905

rs_199571511

2 SubmittersRCV001327271

NM_032119.4(ADGRV1):c.8005G>A (p.Glu2669Lys)

SNV
Germline

Chr5:90696996

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3340143

rs_757776405

2 SubmittersRCV001325384 RCV004609766

NM_032119.4(ADGRV1):c.9476C>T (p.Thr3159Met)

SNV
Germline

Chr5:90720076

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3340517

rs_374467239

2 SubmittersRCV001318138

NM_032119.4(ADGRV1):c.10570C>A (p.Gln3524Lys)

SNV
Germline

Chr5:90745066

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3340789

rs_766464017

4 SubmittersRCV001327202 RCV004815384 RCV003169537

NM_032119.4(ADGRV1):c.11032G>A (p.Val3678Ile)

SNV
Germline

Chr5:90750608

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA360362801

rs_1343381340

2 SubmittersRCV001313315

NM_032119.4(ADGRV1):c.12461C>T (p.Ala4154Val)

SNV
Germline

Chr5:90776510

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3341248

rs_776344596

2 SubmittersRCV001321148 RCV005550270

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.16249G>A (p.Val5417Ile)

SNV
Germline

Chr5:90823477

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3342095

rs_375876245

3 SubmittersRCV004978302 RCV001316375

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_032119.4(ADGRV1):c.3955C>T (p.Arg1319Trp)

SNV
Germline

Chr5:90653529

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3339268

rs_372789540

2 SubmittersRCV001348166

NM_032119.4(ADGRV1):c.4054A>G (p.Ile1352Val)

SNV
Germline

Chr5:90653628

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3339285

rs_373868662

2 SubmittersRCV001350918 RCV005318766

NM_032119.4(ADGRV1):c.4658G>A (p.Arg1553His)

SNV
Germline

Chr5:90658184

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3339381

rs_369994629

3 SubmittersRCV001340087 RCV002547395

NM_032119.4(ADGRV1):c.7624C>G (p.Leu2542Val)

SNV
Germline

Chr5:90694380

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3340065

rs_199869109

3 SubmittersRCV001352550 RCV005318769

NM_032119.4(ADGRV1):c.13367C>T (p.Thr4456Ile)

SNV
Germline

Chr5:90783259

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA122809170

rs_981669644

2 SubmittersRCV001345512 RCV005318762

NM_032119.4(ADGRV1):c.13625G>A (p.Arg4542Gln)

SNV
Germline

Chr5:90784029

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3341566

rs_752756548

2 SubmittersRCV001352266

NM_032119.4(ADGRV1):c.16127G>A (p.Ser5376Asn)

SNV
Germline

Chr5:90815667

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA122824781

rs_946755926

2 SubmittersRCV001341692 RCV005550286

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_032119.4(ADGRV1):c.12919G>A (p.Gly4307Arg)

SNV
Germline

Chr5:90778934

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3341380

rs_190628299

3 SubmittersRCV001355252

NM_032119.4(ADGRV1):c.1243G>A (p.Glu415Lys)

SNV
Germline

Chr5:90628566

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3338655

rs_368528967

3 SubmittersRCV001372358 RCV003169915

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_032119.4(ADGRV1):c.2357A>C (p.Tyr786Ser)

SNV
Germline

Chr5:90642752

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3338899

rs_377131400

2 SubmittersRCV001366932 RCV005318780

NM_032119.4(ADGRV1):c.2524T>G (p.Leu842Val)

SNV
Germline

Chr5:90643012

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3338952

rs_370265583

3 SubmittersRCV001373591 RCV003284289

NM_032119.4(ADGRV1):c.3671C>T (p.Thr1224Ile)

SNV
Germline

Chr5:90653245

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3339228

rs_554285146

3 SubmittersRCV001370088 RCV004980394

NM_032119.4(ADGRV1):c.4681G>A (p.Ala1561Thr)

SNV
Germline

Chr5:90658207

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3339385

rs_376316770

2 SubmittersRCV001358959

NM_032119.4(ADGRV1):c.5722G>A (p.Asp1908Asn)

SNV
Germline

Chr5:90683643

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3339651

rs_757418364

2 SubmittersRCV001360499

NM_032119.4(ADGRV1):c.6116A>G (p.Asp2039Gly)

SNV
Germline

Chr5:90684037

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3339710

rs_779923053

3 SubmittersRCV001368171 RCV003169876

NM_032119.4(ADGRV1):c.7078C>T (p.Arg2360Cys)

SNV
Germline

Chr5:90692731

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3339963

rs_369782677

3 SubmittersRCV001368891 RCV005330772

NM_032119.4(ADGRV1):c.11222G>A (p.Arg3741His)

SNV
Germline

Chr5:90753674

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3340929

rs_560299477

3 SubmittersRCV001366959 RCV002547860

NM_032119.4(ADGRV1):c.11947G>A (p.Ala3983Thr)

SNV
Germline

Chr5:90759415

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3341099

rs_774167945

3 SubmittersRCV001365884 RCV002547843

NM_032119.4(ADGRV1):c.15769A>G (p.Ile5257Val)

SNV
Germline

Chr5:90811029

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3341977

rs_184829061

2 SubmittersRCV001360898 RCV004770097

NM_032119.4(ADGRV1):c.1477C>T (p.Arg493Ter)

SNV
Germline

Chr5:90628800

Pathogenic/Likely pathogenic

Hearing impairment
Ear malformation
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA3338688

rs_779948710

5 SubmittersRCV001375205 RCV001814311 RCV001871968 RCV004815496

NM_032119.4(ADGRV1):c.7735G>A (p.Val2579Met)

SNV
Germline

Chr5:90694491

Conflicting classifications of pathogenicity

Hearing impairment
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3340081

rs_755818826

5 SubmittersRCV001375190 RCV001579415

NM_032119.4(ADGRV1):c.16368G>C (p.Lys5456Asn)

SNV
Germline

Chr5:90823596

Likely pathogenic

Hearing impairment

Criteria Provided
Single Submitter

CA360425792

rs_2150302151

1 SubmittersRCV001375349

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_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.3289+1G>A

SNV
Germline

Chr5:90647765

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360394139

rs_1221977534

1 SubmittersRCV001377903

NM_032119.4(ADGRV1):c.5524+2T>C

SNV
Germline

Chr5:90679631

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA3339593

rs_371375835

1 SubmittersRCV001377384

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_032119.4(ADGRV1):c.11757+2T>A

SNV
Germline

Chr5:90756632

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360370453

rs_1755861358

1 SubmittersRCV001378133

NM_032119.4(ADGRV1):c.12120+1G>A

SNV
Germline

Chr5:90759589

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA3341120

rs_766190197

1 SubmittersRCV001379834

NM_032119.4(ADGRV1):c.13083-1G>A

SNV
Germline

Chr5:90781429

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360391609

rs_2150094107

1 SubmittersRCV001379320

NM_032119.4(ADGRV1):c.13893+1G>A

SNV
Germline

Chr5:90788311

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360396980

rs_1472239682

1 SubmittersRCV001378419

NM_032119.4(ADGRV1):c.14044-1G>A

SNV
Germline

Chr5:90790872

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360399271

rs_1223656686

1 SubmittersRCV001378420

NM_032119.4(ADGRV1):c.18152+1G>A

SNV
Germline

Chr5:90985523

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360429416

rs_2151049870

1 SubmittersRCV001377205

NM_032119.4(ADGRV1):c.2707G>T (p.Glu903Ter)

SNV
Germline

Chr5:90643956

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360390217

rs_2149433604

1 SubmittersRCV001383187

NM_032119.4(ADGRV1):c.3430C>T (p.Arg1144Ter)

SNV
Germline

Chr5:90652359

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360397159

rs_1321788006

1 SubmittersRCV001386049

NM_032119.4(ADGRV1):c.7801C>T (p.Gln2601Ter)

SNV
Germline

Chr5:90694557

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360381566

rs_1404368172

1 SubmittersRCV001386903

NM_032119.4(ADGRV1):c.10457G>A (p.Trp3486Ter)

SNV
Germline

Chr5:90729672

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360405296

rs_2149818882

1 SubmittersRCV001380854

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_032119.4(ADGRV1):c.18025C>T (p.Arg6009Ter)

SNV
Germline

Chr5:90985395

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA360429147

rs_1462031084

3 SubmittersRCV001381663 RCV004815513

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_032119.4(ADGRV1):c.16321A>G (p.Met5441Val)

SNV
Germline

Chr5:90823549

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA360425683

rs_1265127867

3 SubmittersRCV001449786 RCV003679067 RCV005550354

NM_032119.4(ADGRV1):c.5387C>G (p.Ser1796Cys)

SNV
Germline

Chr5:90676153

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3339556

rs_770897158

3 SubmittersRCV001450442

NM_032119.4(ADGRV1):c.10932T>C (p.Ile3644=)

SNV
Germline

Chr5:90745753

Conflicting classifications of pathogenicity

Condition: not provided
ADGRV1-related disorder

Criteria Provided
Conflicting Classifications

CA3340850

rs_773318505

3 SubmittersRCV001479784 RCV004550237

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_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_032119.4(ADGRV1):c.664G>A (p.Asp222Asn)

SNV
Germline

Chr5:90625235

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3338519

rs_763872010

2 SubmittersRCV001568959

NM_032119.4(ADGRV1):c.5351G>A (p.Arg1784Lys)

SNV
Germline

Chr5:90676117

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3339549

rs_748852381

5 SubmittersRCV001569033 RCV004815571 RCV005432759 RCV002569045

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_032119.4(ADGRV1):c.3592G>T (p.Glu1198Ter)

SNV
Germline

Chr5:90652521

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360397928

rs_2149463861

1 SubmittersRCV001586446

NM_032119.4(ADGRV1):c.9214G>A (p.Gly3072Ser)

SNV
Germline

Chr5:90716496

Likely pathogenic

Idiopathic generalized epilepsy

No Assertion Criteria Provided

CA360397032

rs_757560169

1 SubmittersRCV001581095

NM_032119.4(ADGRV1):c.17195C>T (p.Pro5732Leu)

SNV
Germline

Chr5:90848812

Pathogenic

Idiopathic generalized epilepsy

No Assertion Criteria Provided

CA360429805

rs_2150388869

1 SubmittersRCV001581096

NM_032119.4(ADGRV1):c.3509A>C (p.Tyr1170Ser)

SNV
Germline

Chr5:90652438

Likely pathogenic

Idiopathic generalized epilepsy

No Assertion Criteria Provided

CA360397607

rs_188772875

1 SubmittersRCV001581097

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_032119.4(ADGRV1):c.7133+3A>G

SNV
Germline

Chr5:90692789

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA122797193

rs_911015463

2 SubmittersRCV001757279

NM_032119.4(ADGRV1):c.18214C>T (p.Leu6072Phe)

SNV
Germline

Chr5:91072508

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3342593

rs_769391232

2 SubmittersRCV001768019

NM_032119.4(ADGRV1):c.15698T>C (p.Met5233Thr)

SNV
Germline

Chr5:90810958

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3341964

rs_750968239

2 SubmittersRCV001768057

NM_032119.4(ADGRV1):c.14353A>G (p.Ile4785Val)

SNV
Germline

Chr5:90791182

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3341711

rs_773654115

2 SubmittersRCV001757746

NM_032119.4(ADGRV1):c.12767A>T (p.Asn4256Ile)

SNV
Germline

Chr5:90778527

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3341327

rs_750752068

3 SubmittersRCV001758903 RCV004040704

NM_032119.4(ADGRV1):c.13017T>A (p.Asp4339Glu)

SNV
Germline

Chr5:90779032

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3341404

rs_780334804

3 SubmittersRCV001755570 RCV002540697

NM_032119.4(ADGRV1):c.8286+4A>G

SNV
Germline

Chr5:90703799

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA560899309

rs_1343614760

2 SubmittersRCV001755675

NM_032119.4(ADGRV1):c.12485T>C (p.Ile4162Thr)

SNV
Germline

Chr5:90776534

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3341258

rs_370746571

3 SubmittersRCV001767941 RCV004980678

NM_032119.4(ADGRV1):c.6797G>A (p.Gly2266Asp)

SNV
Germline

Chr5:90690887

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3339878

rs_771132013

2 SubmittersRCV001769936

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_032119.4(ADGRV1):c.7664A>G (p.Lys2555Arg)

SNV
Germline

Chr5:90694420

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA360380268

rs_1284659275

2 SubmittersRCV001794584

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_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_032119.4(ADGRV1):c.7382C>T (p.Pro2461Leu)

SNV
Germline

Chr5:90694138

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3340021

rs_560465803

3 SubmittersRCV001840936 RCV002543268

NM_032119.4(ADGRV1):c.8941G>A (p.Val2981Ile)

SNV
Germline

Chr5:90711221

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3340409

rs_779145615

2 SubmittersRCV002034018

NM_032119.4(ADGRV1):c.1604G>A (p.Arg535Gln)

SNV
Germline

Chr5:90629304

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3338726

rs_758505511

2 SubmittersRCV001924641 RCV002553462

NM_032119.4(ADGRV1):c.16573G>A (p.Gly5525Arg)

SNV
Germline

Chr5:90829148

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA122805777

rs_368860179

2 SubmittersRCV002027639

NM_032119.4(ADGRV1):c.14553A>G (p.Gln4851=)

SNV
Germline

Chr5:90802774

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3341757

rs_765459820

2 SubmittersRCV001925564

NM_032119.4(ADGRV1):c.18601A>C (p.Asn6201His)

SNV
Germline

Chr5:91150198

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3342692

rs_201299038

2 SubmittersRCV001894388 RCV003317538

NM_032119.4(ADGRV1):c.505C>T (p.Leu169Phe)

SNV
Germline

Chr5:90622648

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA360363297

rs_952062982

3 SubmittersRCV001967828 RCV004043135

NM_032119.4(ADGRV1):c.9492T>G (p.Asp3164Glu)

SNV
Germline

Chr5:90720092

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3340521

rs_199691594

2 SubmittersRCV001993612

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_032119.4(ADGRV1):c.16147G>T (p.Gly5383Ter)

SNV
Germline

Chr5:90815687

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360412593

rs_1762827040

1 SubmittersRCV002037639

NM_032119.4(ADGRV1):c.4630A>T (p.Lys1544Ter)

SNV
Germline

Chr5:90658156

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360404425

rs_1769690100

1 SubmittersRCV001960610

NM_032119.4(ADGRV1):c.10414A>G (p.Asn3472Asp)

SNV
Germline

Chr5:90728921

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3340735

rs_369190212

2 SubmittersRCV001994226 RCV003264364

NM_032119.4(ADGRV1):c.13742A>G (p.Tyr4581Cys)

SNV
Germline

Chr5:90788159

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3341601

rs_776678308

2 SubmittersRCV002046593 RCV005552630

NM_032119.4(ADGRV1):c.830A>T (p.His277Leu)

SNV
Germline

Chr5:90627368

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3338571

rs_376150952

2 SubmittersRCV002035526 RCV004045922

NM_032119.4(ADGRV1):c.16537G>T (p.Ala5513Ser)

SNV
Germline

Chr5:90829112

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3342173

rs_372113605

3 SubmittersRCV001960266 RCV003355686

NM_032119.4(ADGRV1):c.15742A>T (p.Thr5248Ser)

SNV
Germline

Chr5:90811002

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA360410706

rs_1174478035

2 SubmittersRCV002041334

NM_032119.4(ADGRV1):c.6473C>T (p.Pro2158Leu)

SNV
Germline

Chr5:90685978

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3339789

rs_771222609

2 SubmittersRCV001900409 RCV002552742

NM_032119.4(ADGRV1):c.5857A>G (p.Ser1953Gly)

SNV
Germline

Chr5:90683778

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA360413525

rs_1425873975

2 SubmittersRCV001964920 RCV002246601

NM_032119.4(ADGRV1):c.10972C>T (p.Gln3658Ter)

SNV
Germline

Chr5:90745793

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360409785

rs_1754559510

1 SubmittersRCV001950837

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.9797C>T (p.Ser3266Leu)

SNV
Germline

Chr5:90724880

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA122808913

rs_1040245889

2 SubmittersRCV002018287

NM_032119.4(ADGRV1):c.9325C>T (p.Gln3109Ter)

SNV
Germline

Chr5:90716607

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360397396

rs_2149744290

1 SubmittersRCV001875475

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_032119.4(ADGRV1):c.9269C>T (p.Thr3090Ile)

SNV
Germline

Chr5:90716551

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3340475

rs_565100245

3 SubmittersRCV001881850 RCV004587235

NM_032119.4(ADGRV1):c.5833A>G (p.Lys1945Glu)

SNV
Germline

Chr5:90683754

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3339673

rs_772605124

3 SubmittersRCV002019714 RCV002625404

NM_032119.4(ADGRV1):c.15480C>A (p.Tyr5160Ter)

SNV
Germline

Chr5:90810740

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360409708

rs_2150228286

1 SubmittersRCV001935687

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_032119.4(ADGRV1):c.1349G>C (p.Arg450Thr)

SNV
Germline

Chr5:90628672

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA360372175

rs_1561415183

2 SubmittersRCV001958536

NM_032119.4(ADGRV1):c.16197-1G>A

SNV
Germline

Chr5:90823424

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360425434

rs_1561805689

1 SubmittersRCV001966961

NM_032119.4(ADGRV1):c.10054-2A>C

SNV
Germline

Chr5:90725547

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360403153

rs_2149797551

1 SubmittersRCV001953730

NM_032119.4(ADGRV1):c.6727A>C (p.Ile2243Leu)

SNV
Germline

Chr5:90690817

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3339862

rs_184116434

3 SubmittersRCV002019694 RCV005565104

NM_032119.4(ADGRV1):c.2438G>A (p.Arg813Gln)

SNV
Germline

Chr5:90642926

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA121834379

rs_370189682

2 SubmittersRCV002017494

NM_032119.4(ADGRV1):c.4703G>A (p.Ser1568Asn)

SNV
Germline

Chr5:90658229

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3339390

rs_758104018

2 SubmittersRCV001997067 RCV003323958

NM_032119.4(ADGRV1):c.11757+1G>A

SNV
Germline

Chr5:90756631

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA122799039

rs_886498535

1 SubmittersRCV001976322

NM_032119.4(ADGRV1):c.7576A>C (p.Ile2526Leu)

SNV
Germline

Chr5:90694332

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3340060

rs_75191159

2 SubmittersRCV002045371 RCV005552605

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_032119.4(ADGRV1):c.12896G>A (p.Arg4299Gln)

SNV
Germline

Chr5:90778911

Conflicting classifications of pathogenicity

Condition: not provided
Febrile seizures, familial, 4

Criteria Provided
Conflicting Classifications

CA3341375

rs_767181564

3 SubmittersRCV001916595 RCV004762255

NM_032119.4(ADGRV1):c.5670A>G (p.Ile1890Met)

SNV
Germline

Chr5:90683591

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA360413130

rs_1283387324

2 SubmittersRCV002045299 RCV005552604

NM_032119.4(ADGRV1):c.6307G>T (p.Glu2103Ter)

SNV
Germline

Chr5:90685812

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360362894

rs_2149594548

1 SubmittersRCV001958811

NM_032119.4(ADGRV1):c.9120T>G (p.Asp3040Glu)

SNV
Germline

Chr5:90712364

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3340446

rs_200204560

2 SubmittersRCV002044698 RCV003355566

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_032119.4(ADGRV1):c.7534A>G (p.Ile2512Val)

SNV
Germline

Chr5:90694290

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA360379008

rs_1404014734

2 SubmittersRCV001971196 RCV005321042

NM_032119.4(ADGRV1):c.12535C>T (p.Arg4179Ter)

SNV
Germline

Chr5:90777912

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360386933

rs_1554112848

1 SubmittersRCV001891330

NM_032119.4(ADGRV1):c.3125A>G (p.Asp1042Gly)

SNV
Germline

Chr5:90647600

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3339106

rs_755515191

2 SubmittersRCV001971442

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_032119.4(ADGRV1):c.4774A>G (p.Ile1592Val)

SNV
Germline

Chr5:90672567

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3339413

rs_200592712

2 SubmittersRCV002020418 RCV004046140

NM_032119.4(ADGRV1):c.2474A>T (p.Asn825Ile)

SNV
Germline

Chr5:90642962

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
ADGRV1-related disorder

Criteria Provided
Conflicting Classifications

CA3338938

rs_374034519

3 SubmittersRCV001870547 RCV004040469 RCV004552070

NM_032119.4(ADGRV1):c.18395G>A (p.Trp6132Ter)

SNV
Germline

Chr5:91102303

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360431522

rs_2126647142

1 SubmittersRCV001954968

NM_032119.4(ADGRV1):c.12632G>A (p.Arg4211Gln)

SNV
Germline

Chr5:90778009

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3341297

rs_768374513

2 SubmittersRCV001894826

NM_032119.4(ADGRV1):c.9809G>A (p.Trp3270Ter)

SNV
Germline

Chr5:90724892

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360402578

rs_2149794528

1 SubmittersRCV002040124

NM_032119.4(ADGRV1):c.10493C>T (p.Ser3498Phe)

SNV
Germline

Chr5:90729708

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3340760

rs_772925137

2 SubmittersRCV001909472 RCV002555721

NM_032119.4(ADGRV1):c.212A>G (p.Tyr71Cys)

SNV
Germline

Chr5:90617808

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3338416

rs_530533430

2 SubmittersRCV001909496

NM_032119.4(ADGRV1):c.12143C>A (p.Ser4048Ter)

SNV
Germline

Chr5:90763327

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360377219

rs_2150014852

1 SubmittersRCV001993260

NM_032119.4(ADGRV1):c.5928T>A (p.Tyr1976Ter)

SNV
Germline

Chr5:90683849

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360413751

rs_1199598914

1 SubmittersRCV002007376

NM_032119.4(ADGRV1):c.14521T>C (p.Phe4841Leu)

SNV
Germline

Chr5:90802742

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3341752

rs_763840800

3 SubmittersRCV002009720 RCV004042388

NM_032119.4(ADGRV1):c.17455-2A>G

SNV
Germline

Chr5:90854060

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360430416

rs_1279862720

1 SubmittersRCV001974208

NM_032119.4(ADGRV1):c.9430G>T (p.Glu3144Ter)

SNV
Germline

Chr5:90716712

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360397778

rs_1056978451

1 SubmittersRCV001922487

NM_032119.4(ADGRV1):c.8962C>A (p.Pro2988Thr)

SNV
Germline

Chr5:90711242

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA360395766

rs_1442112970

2 SubmittersRCV001968558 RCV003303511

NM_032119.4(ADGRV1):c.18310+1G>A

SNV
Germline

Chr5:91072605

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360431972

rs_2151394960

1 SubmittersRCV001983624

NM_032119.4(ADGRV1):c.9948T>A (p.Asn3316Lys)

SNV
Germline

Chr5:90725127

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3340635

rs_534508538

2 SubmittersRCV002024450 RCV003348772

NM_032119.4(ADGRV1):c.5740G>A (p.Ala1914Thr)

SNV
Germline

Chr5:90683661

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3339655

rs_200965928

2 SubmittersRCV002014794 RCV004975995

NM_032119.4(ADGRV1):c.12361C>T (p.Gln4121Ter)

SNV
Germline

Chr5:90774261

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360383831

rs_2150063115

1 SubmittersRCV002007596

NM_032119.4(ADGRV1):c.2758C>T (p.Arg920Ter)

SNV
Germline

Chr5:90644729

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA121835058

rs_1016685696

1 SubmittersRCV001939612

NM_032119.4(ADGRV1):c.11377+1G>A

SNV
Germline

Chr5:90753830

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360365566

rs_2149966329

1 SubmittersRCV002011646

NM_032119.4(ADGRV1):c.10142A>G (p.Asp3381Gly)

SNV
Germline

Chr5:90725637

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3340673

rs_768784845

3 SubmittersRCV002040351 RCV005331141

NM_032119.4(ADGRV1):c.4856G>A (p.Gly1619Asp)

SNV
Germline

Chr5:90672649

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3339422

rs_762316414

2 SubmittersRCV001932668 RCV004587241

NM_032119.4(ADGRV1):c.16369-2A>G

SNV
Germline

Chr5:90828942

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360426593

rs_2150320461

1 SubmittersRCV001939496

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_032119.4(ADGRV1):c.18716C>T (p.Pro6239Leu)

SNV
Germline

Chr5:91153312

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3342727

rs_548351825

2 SubmittersRCV001934371 RCV002562171

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_032119.4(ADGRV1):c.10550-1G>A

SNV
Germline

Chr5:90745045

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360407371

rs_2149910851

1 SubmittersRCV001970231

NM_032119.4(ADGRV1):c.673-2A>G

SNV
Germline

Chr5:90627209

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360365378

rs_2149375770

1 SubmittersRCV002020536

NM_032119.4(ADGRV1):c.7005T>G (p.Asp2335Glu)

SNV
Germline

Chr5:90692658

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3339948

rs_753961140

3 SubmittersRCV002048724 RCV004976195

NM_032119.4(ADGRV1):c.13838A>C (p.His4613Pro)

SNV
Germline

Chr5:90788255

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3341624

rs_775508830

2 SubmittersRCV001901381

NM_032119.4(ADGRV1):c.6382C>T (p.Arg2128Ter)

SNV
Germline

Chr5:90685887

Pathogenic

Condition: not provided
ADGRV1-related disorder

Criteria Provided
Single Submitter

CA3339768

rs_727504561

2 SubmittersRCV001949441 RCV004738473

NM_032119.4(ADGRV1):c.6269G>A (p.Arg2090His)

SNV
Germline

Chr5:90684190

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3339739

rs_370252248

3 SubmittersRCV001909134

NM_032119.4(ADGRV1):c.16886G>A (p.Trp5629Ter)

SNV
Germline

Chr5:90840852

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360428720

rs_1765363480

1 SubmittersRCV001956063

NM_032119.4(ADGRV1):c.6886C>T (p.Pro2296Ser)

SNV
Germline

Chr5:90690976

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA360368513

rs_1351702441

2 SubmittersRCV001993891 RCV004044675

NM_032119.4(ADGRV1):c.14662-2A>C

SNV
Germline

Chr5:90805282

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360406059

rs_1761796594

1 SubmittersRCV001961614

NM_032119.4(ADGRV1):c.180G>C (p.Glu60Asp)

SNV
Germline

Chr5:90614992

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3338398

rs_569274233

2 SubmittersRCV001903933 RCV003348604

NM_032119.4(ADGRV1):c.1054C>A (p.Pro352Thr)

SNV
Germline

Chr5:90627592

Pathogenic/Likely pathogenic

Condition: not provided
ADGRV1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA3338602

rs_755371825

2 SubmittersRCV002008880 RCV004690217

NM_032119.4(ADGRV1):c.18014A>G (p.His6005Arg)

SNV
Germline

Chr5:90985384

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3342540

rs_754863582

2 SubmittersRCV001883846

NM_032119.4(ADGRV1):c.10054-1G>T

SNV
Germline

Chr5:90725548

Pathogenic/Likely pathogenic

Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA360403157

rs_2149797559

2 SubmittersRCV001963135

NM_032119.4(ADGRV1):c.12289G>C (p.Glu4097Gln)

SNV
Germline

Chr5:90774189

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3341208

rs_548841667

2 SubmittersRCV002048286 RCV004612106

NM_032119.4(ADGRV1):c.13083-12T>A

SNV
Germline

Chr5:90781418

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA3341438

rs_765178095

1 SubmittersRCV001995388

NM_032119.4(ADGRV1):c.15188T>C (p.Leu5063Pro)

SNV
Germline

Chr5:90810448

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360408206

rs_2150226813

1 SubmittersRCV001967585

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_032119.4(ADGRV1):c.13411T>G (p.Ser4471Ala)

SNV
Germline

Chr5:90783303

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3341513

rs_769830439

3 SubmittersRCV001944185 RCV003289258

NM_032119.4(ADGRV1):c.2059A>G (p.Thr687Ala)

SNV
Germline

Chr5:90637767

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA360383506

rs_1156763944

2 SubmittersRCV001985573 RCV002564428

NM_032119.4(ADGRV1):c.4891A>G (p.Ser1631Gly)

SNV
Germline

Chr5:90672684

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3339432

rs_777874127

2 SubmittersRCV002001481 RCV004045290

NM_032119.4(ADGRV1):c.9069G>C (p.Arg3023Ser)

SNV
Germline

Chr5:90712313

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3340439

rs_540089974

2 SubmittersRCV001888658 RCV004699527

NM_032119.4(ADGRV1):c.11206A>C (p.Ile3736Leu)

SNV
Germline

Chr5:90753658

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3340921

rs_374344462

2 SubmittersRCV001913537 RCV002555749

NM_032119.4(ADGRV1):c.16369G>A (p.Val5457Ile)

SNV
Germline

Chr5:90828944

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3342144

rs_765496324

2 SubmittersRCV001957690 RCV002562133

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_032119.4(ADGRV1):c.8824+1G>A

SNV
Germline

Chr5:90708910

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360393698

rs_2149707525

1 SubmittersRCV001998055

NM_032119.4(ADGRV1):c.8746C>T (p.Leu2916=)

SNV
Germline

Chr5:90708831

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3340344

rs_372007534

2 SubmittersRCV002181809

NM_032119.4(ADGRV1):c.18040T>C (p.Phe6014Leu)

SNV
Germline

Chr5:90985410

Conflicting classifications of pathogenicity

ADGRV1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3342545

rs_201420881

4 SubmittersRCV004553646 RCV002087669

NM_032119.4(ADGRV1):c.13255A>G (p.Met4419Val)

SNV
Germline

Chr5:90783147

Conflicting classifications of pathogenicity

not specified

Criteria Provided
Conflicting Classifications

CA360392673

rs_1373626737

2 SubmittersRCV002246894

NM_032119.4(ADGRV1):c.3222A>G (p.Ile1074Met)

SNV
Germline

Chr5:90647697

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3339128

rs_751404994

4 SubmittersRCV002247178 RCV005552680

NM_032119.4(ADGRV1):c.4441C>T (p.Gln1481Ter)

SNV
Germline

Chr5:90657967

Pathogenic/Likely pathogenic

Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA121841180

rs_973342972

2 SubmittersRCV002255008

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_032119.4(ADGRV1):c.17645A>G (p.Tyr5882Cys)

SNV
Germline

Chr5:90855791

Likely pathogenic

Febrile seizures, familial, 4

Criteria Provided
Single Submitter

CA360430858

rs_778878007

1 SubmittersRCV002274392

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_032119.4(ADGRV1):c.13048T>C (p.Ser4350Pro)

SNV
Germline

Chr5:90779063

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3341411

rs_760285250

2 SubmittersRCV002281824 RCV003560925

NM_032119.4(ADGRV1):c.18092T>C (p.Ile6031Thr)

SNV
Germline

Chr5:90985462

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3342555

rs_760388849

2 SubmittersRCV002293630

NM_032119.4(ADGRV1):c.8347G>T (p.Glu2783Ter)

SNV
Germline

Chr5:90704449

Pathogenic/Likely pathogenic

Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA360389926

rs_2149687811

2 SubmittersRCV002293742

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_032119.4(ADGRV1):c.9896T>A (p.Ile3299Asn)

SNV
Germline

Chr5:90724979

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3340616

rs_761728818

2 SubmittersRCV002474050

NM_032119.4(ADGRV1):c.9906+9C>T

SNV
Germline

Chr5:90724998

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA561259752

rs_1270729721

2 SubmittersRCV002475082

NM_032119.4(ADGRV1):c.15293A>C (p.Glu5098Ala)

SNV
Germline

Chr5:90810553

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3341890

rs_749667453

2 SubmittersRCV002510043

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_032119.4(ADGRV1):c.3860T>C (p.Ile1287Thr)

SNV
Germline

Chr5:90653434

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3339251

rs_547705769

2 SubmittersRCV003088580 RCV005567409

NM_032119.4(ADGRV1):c.2956A>G (p.Lys986Glu)

SNV
Germline

Chr5:90646025

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3339069

rs_774530431

3 SubmittersRCV002607621 RCV002623776 RCV005419572

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_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.2834G>A (p.Gly945Glu)

SNV
Germline

Chr5:90644805

Conflicting classifications of pathogenicity

Condition: not provided
Vascular disorder

Criteria Provided
Conflicting Classifications

CA3339027

rs_373001982

2 SubmittersRCV002575709 RCV005626667

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_032119.4(ADGRV1):c.1739G>C (p.Arg580Thr)

SNV
Germline

Chr5:90629439

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3338741

rs_201744678

2 SubmittersRCV002617050 RCV002617051

NM_032119.4(ADGRV1):c.13159C>T (p.Arg4387Cys)

SNV
Germline

Chr5:90781506

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3341452

rs_770485484

2 SubmittersRCV002621602 RCV005321189

NM_032119.4(ADGRV1):c.2248G>A (p.Val750Met)

SNV
Germline

Chr5:90642643

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3338875

rs_780802447

2 SubmittersRCV002600545 RCV004973473

NM_032119.4(ADGRV1):c.15505A>G (p.Ile5169Val)

SNV
Germline

Chr5:90810765

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA122821802

rs_770347536

2 SubmittersRCV002597128 RCV005321179

NM_032119.4(ADGRV1):c.16622G>A (p.Ser5541Asn)

SNV
Germline

Chr5:90840588

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA360428164

rs_1168366157

2 SubmittersRCV002597135 RCV002597134

NM_032119.4(ADGRV1):c.18107A>G (p.Tyr6036Cys)

SNV
Germline

Chr5:90985477

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA360429314

rs_1305519459

2 SubmittersRCV002597940 RCV005565249

NM_032119.4(ADGRV1):c.18330T>A (p.Tyr6110Ter)

SNV
Germline

Chr5:91102238

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360431273

rs_1385277579

1 SubmittersRCV002609923

NM_032119.4(ADGRV1):c.13434-2A>T

SNV
Germline

Chr5:90783836

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360394570

rs_746923719

1 SubmittersRCV002635319

NM_032119.4(ADGRV1):c.12235A>G (p.Lys4079Glu)

SNV
Germline

Chr5:90763419

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3341177

rs_756969604

3 SubmittersRCV002604615 RCV005058930 RCV004065796

NM_032119.4(ADGRV1):c.14150A>G (p.His4717Arg)

SNV
Germline

Chr5:90790979

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA3341678

rs_375485376

3 SubmittersRCV002605311 RCV004612213 RCV005239470

NM_032119.4(ADGRV1):c.17063G>A (p.Arg5688Gln)

SNV
Germline

Chr5:90848680

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3342285

rs_374682222

2 SubmittersRCV002645710

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.12914T>C (p.Met4305Thr)

SNV
Germline

Chr5:90778929

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3341378

rs_149133690

2 SubmittersRCV002667132

NM_032119.4(ADGRV1):c.5018G>C (p.Gly1673Ala)

SNV
Germline

Chr5:90674142

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3339464

rs_373568560

3 SubmittersRCV002650187 RCV005321204

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.7307T>G (p.Leu2436Arg)

SNV
Germline

Chr5:90694063

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA360376065

rs_762909195

2 SubmittersRCV002650714 RCV003324042

NM_032119.4(ADGRV1):c.10997A>G (p.Glu3666Gly)

SNV
Germline

Chr5:90750573

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3340878

rs_772390527

2 SubmittersRCV002650818

NM_032119.4(ADGRV1):c.2264T>C (p.Leu755Pro)

SNV
Germline

Chr5:90642659

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3338878

rs_758784613

2 SubmittersRCV002676054

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.12257C>G (p.Pro4086Arg)

SNV
Germline

Chr5:90763441

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3341182

rs_749313133

3 SubmittersRCV002706654 RCV002706653

NM_032119.4(ADGRV1):c.15199A>G (p.Lys5067Glu)

SNV
Germline

Chr5:90810459

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA360408282

rs_1227963459

2 SubmittersRCV002700218 RCV004066911

NM_032119.4(ADGRV1):c.6931G>A (p.Asp2311Asn)

SNV
Germline

Chr5:90691021

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3339900

rs_764647159

2 SubmittersRCV002690335

NM_032119.4(ADGRV1):c.2923A>G (p.Thr975Ala)

SNV
Germline

Chr5:90645992

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3339060

rs_754037480

2 SubmittersRCV002681564 RCV005565275

NM_032119.4(ADGRV1):c.1603C>T (p.Arg535Ter)

SNV
Germline

Chr5:90629303

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA121826751

rs_746004086

1 SubmittersRCV002701346

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_032119.4(ADGRV1):c.6852C>A (p.Asp2284Glu)

SNV
Germline

Chr5:90690942

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA360368347

rs_1428365702

2 SubmittersRCV002746066

NM_032119.4(ADGRV1):c.13460T>A (p.Leu4487Gln)

SNV
Germline

Chr5:90783864

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3341534

rs_370968487

2 SubmittersRCV002786010 RCV004973624

NM_032119.4(ADGRV1):c.8692G>C (p.Gly2898Arg)

SNV
Germline

Chr5:90706356

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3340315

rs_577713139

2 SubmittersRCV002775442 RCV004064692

NM_032119.4(ADGRV1):c.18625-1G>T

SNV
Germline

Chr5:91153220

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA3342716

rs_774832185

1 SubmittersRCV002741700

NM_032119.4(ADGRV1):c.17128A>G (p.Ser5710Gly)

SNV
Germline

Chr5:90848745

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3342299

rs_755338566

2 SubmittersRCV002776496 RCV002776497

NM_032119.4(ADGRV1):c.5155G>A (p.Ala1719Thr)

SNV
Germline

Chr5:90675287

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3339506

rs_777001637

3 SubmittersRCV002814538 RCV003167789

NM_032119.4(ADGRV1):c.8778C>G (p.Tyr2926Ter)

SNV
Germline

Chr5:90708863

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360393516

rs_375310575

1 SubmittersRCV002819089

NM_032119.4(ADGRV1):c.15244C>T (p.Gln5082Ter)

SNV
Germline

Chr5:90810504

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360408587

rs_2532184856

1 SubmittersRCV002791395

NM_032119.4(ADGRV1):c.16368+1G>T

SNV
Germline

Chr5:90823597

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360425796

rs_2532311493

1 SubmittersRCV002791397

NM_032119.4(ADGRV1):c.12849+1G>T

SNV
Germline

Chr5:90778610

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA3341344

rs_761063842

1 SubmittersRCV002811106

NM_032119.4(ADGRV1):c.13429G>T (p.Glu4477Ter)

SNV
Germline

Chr5:90783321

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360394469

rs_1315773964

1 SubmittersRCV002810819

NM_032119.4(ADGRV1):c.11563G>T (p.Glu3855Ter)

SNV
Germline

Chr5:90755168

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360367344

rs_774378608

1 SubmittersRCV002856573

NM_032119.4(ADGRV1):c.13894-1G>C

SNV
Germline

Chr5:90789701

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360398347

rs_868806958

1 SubmittersRCV002830184

NM_032119.4(ADGRV1):c.11713G>T (p.Glu3905Ter)

SNV
Germline

Chr5:90756586

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360369965

rs_2531646837

1 SubmittersRCV002880275

NM_032119.4(ADGRV1):c.18250C>T (p.Gln6084Ter)

SNV
Germline

Chr5:91072544

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360431834

rs_1442235176

1 SubmittersRCV002862856

NM_032119.4(ADGRV1):c.5664+1G>A

SNV
Germline

Chr5:90681455

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360412693

rs_2530798190

1 SubmittersRCV002894085

NM_032119.4(ADGRV1):c.10769+2T>A

SNV
Germline

Chr5:90745267

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360408721

rs_2531540786

1 SubmittersRCV002899049

NM_032119.4(ADGRV1):c.10310G>A (p.Trp3437Ter)

SNV
Germline

Chr5:90728817

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA3340726

rs_761353617

1 SubmittersRCV002902958

NM_032119.4(ADGRV1):c.461C>G (p.Ser154Ter)

SNV
Germline

Chr5:90622604

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360362795

rs_2531757792

1 SubmittersRCV002903105

NM_032119.4(ADGRV1):c.18152+1G>T

SNV
Germline

Chr5:90985523

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360429418

rs_2151049870

1 SubmittersRCV002877367

NM_032119.4(ADGRV1):c.4688T>G (p.Leu1563Ter)

SNV
Germline

Chr5:90658214

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360404802

rs_1370684440

1 SubmittersRCV002882070

NM_032119.4(ADGRV1):c.1070C>T (p.Ser357Leu)

SNV
Germline

Chr5:90627608

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3338607

rs_41305900

2 SubmittersRCV002918961 RCV005239542

NM_032119.4(ADGRV1):c.5687T>C (p.Leu1896Pro)

SNV
Germline

Chr5:90683608

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3339649

rs_769239259

2 SubmittersRCV002943516 RCV004068098

NM_032119.4(ADGRV1):c.10173G>A (p.Trp3391Ter)

SNV
Germline

Chr5:90728680

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360403601

rs_2531364797

1 SubmittersRCV002966646

NM_032119.4(ADGRV1):c.12285+1G>T

SNV
Germline

Chr5:90763470

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360379230

rs_765705070

1 SubmittersRCV003007551

NM_032119.4(ADGRV1):c.10975-2A>C

SNV
Germline

Chr5:90750549

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA3340876

rs_779117887

1 SubmittersRCV003010243

NM_032119.4(ADGRV1):c.18433-1G>A

SNV
Germline

Chr5:91150029

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360431984

rs_1218755350

1 SubmittersRCV003013906

NM_032119.4(ADGRV1):c.7663A>T (p.Lys2555Ter)

SNV
Germline

Chr5:90694419

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360380261

rs_1244011928

1 SubmittersRCV003012250

NM_032119.4(ADGRV1):c.13793C>T (p.Pro4598Leu)

SNV
Germline

Chr5:90788210

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA360396737

rs_1308517887

2 SubmittersRCV003032165

NM_032119.4(ADGRV1):c.18757G>T (p.Glu6253Ter)

SNV
Germline

Chr5:91153353

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360432721

rs_2533413737

1 SubmittersRCV003047744

NM_032119.4(ADGRV1):c.7440G>A (p.Trp2480Ter)

SNV
Germline

Chr5:90694196

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360377613

rs_1479306494

1 SubmittersRCV003043887

NM_032119.4(ADGRV1):c.6490+1G>A

SNV
Germline

Chr5:90685996

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA122796481

rs_1052814686

1 SubmittersRCV003059817

NM_032119.4(ADGRV1):c.12228A>G (p.Ile4076Met)

SNV
Germline

Chr5:90763412

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA360378308

rs_1289601144

3 SubmittersRCV002665003 RCV003698973

NM_032119.4(ADGRV1):c.13334C>G (p.Pro4445Arg)

SNV
Germline

Chr5:90783226

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3341500

rs_764248881

2 SubmittersRCV002713966 RCV003574988

NM_032119.4(ADGRV1):c.8083A>G (p.Ile2695Val)

SNV
Germline

Chr5:90697074

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA122798029

rs_41311339

2 SubmittersRCV002807807 RCV003679144

NM_032119.4(ADGRV1):c.1498G>A (p.Glu500Lys)

SNV
Germline

Chr5:90628821

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3338694

rs_375839872

2 SubmittersRCV002861146 RCV003561117

NM_032119.4(ADGRV1):c.2251G>A (p.Glu751Lys)

SNV
Germline

Chr5:90642646

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3338876

rs_755086950

2 SubmittersRCV002920416 RCV003660991

NM_032119.4(ADGRV1):c.14308C>T (p.Arg4770Cys)

SNV
Germline

Chr5:90791137

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA122811311

rs_970955155

2 SubmittersRCV002970380 RCV003778521

NM_032119.4(ADGRV1):c.3G>A (p.Met1Ile)

SNV
Germline

Chr5:90558898

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Febrile seizures, familial, 4

Criteria Provided
Conflicting Classifications

CA360363025

rs_1228352007

3 SubmittersRCV003129311 RCV005060948 RCV005356358

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_032119.4(ADGRV1):c.13130C>T (p.Pro4377Leu)

SNV
Germline

Chr5:90781477

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA360391793

rs_542081391

2 SubmittersRCV003159426

NM_032119.4(ADGRV1):c.16930C>T (p.Leu5644Phe)

SNV
Germline

Chr5:90840896

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3342254

rs_760526892

2 SubmittersRCV003779674 RCV003197931

NM_032119.4(ADGRV1):c.15361G>A (p.Val5121Met)

SNV
Germline

Chr5:90810621

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA360409090

rs_1372651519

2 SubmittersRCV003215784 RCV003699048

NM_032119.4(ADGRV1):c.896A>G (p.Tyr299Cys)

SNV
Germline

Chr5:90627434

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3338579

rs_767553206

2 SubmittersRCV003225551

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_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_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_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_032119.4(ADGRV1):c.11060G>A (p.Arg3687His)

SNV
Germline

Chr5:90750636

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3340886

rs_762481926

3 SubmittersRCV003236071 RCV004621771

NM_032119.4(ADGRV1):c.10195C>T (p.His3399Tyr)

SNV
Germline

Chr5:90728702

Conflicting classifications of pathogenicity

Inborn genetic diseases
Febrile seizures, familial, 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3340703

rs_777120827

3 SubmittersRCV003299222 RCV003448495 RCV003779971

NM_032119.4(ADGRV1):c.18181T>A (p.Leu6061Met)

SNV
Germline

Chr5:91072475

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3342588

rs_778470053

2 SubmittersRCV003287649 RCV003777075

NM_032119.4(ADGRV1):c.6620A>G (p.Asn2207Ser)

SNV
Germline

Chr5:90689990

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3339840

rs_574127323

2 SubmittersRCV003295784 RCV003777092

NM_032119.4(ADGRV1):c.17258G>A (p.Trp5753Ter)

SNV
Germline

Chr5:90853337

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360429955

rs_1383088146

1 SubmittersRCV003313510

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_032119.4(ADGRV1):c.9261A>T (p.Arg3087Ser)

SNV
Germline

Chr5:90716543

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3340473

rs_544867477

2 SubmittersRCV003327926

NM_032119.4(ADGRV1):c.5311C>T (p.Gln1771Ter)

SNV
Germline

Chr5:90675443

Likely pathogenic

ADGRV1-related disorder

Criteria Provided
Single Submitter

CA3339531

rs_727503074

1 SubmittersRCV004550626

NM_032119.4(ADGRV1):c.16078+1G>A

SNV
Germline

Chr5:90811339

Likely pathogenic

ADGRV1-related disorder

Criteria Provided
Single Submitter

CA360411787

rs_2532195034

1 SubmittersRCV004552456

NM_032119.4(ADGRV1):c.3601G>T (p.Glu1201Ter)

SNV
Germline

Chr5:90652530

Likely pathogenic

ADGRV1-related disorder

Criteria Provided
Single Submitter

CA360397952

rs_2532076376

1 SubmittersRCV004552472

NM_032119.4(ADGRV1):c.4975G>T (p.Glu1659Ter)

SNV
Germline

Chr5:90674099

Likely pathogenic

ADGRV1-related disorder

Criteria Provided
Single Submitter

CA360407694

rs_775893405

1 SubmittersRCV004550687

NM_032119.4(ADGRV1):c.740C>T (p.Thr247Ile)

SNV
Germline

Chr5:90627278

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA360365633

rs_375653808

2 SubmittersRCV003487879

NM_032119.4(ADGRV1):c.5356A>T (p.Lys1786Ter)

SNV
Germline

Chr5:90676122

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360410672

rs_1382307460

1 SubmittersRCV003543579

NM_032119.4(ADGRV1):c.18433-2A>G

SNV
Germline

Chr5:91150028

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360431982

rs_1482222480

1 SubmittersRCV003541983

NM_032119.4(ADGRV1):c.6564T>A (p.Tyr2188Ter)

SNV
Germline

Chr5:90689934

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360366209

rs_2530891428

1 SubmittersRCV003546980

NM_032119.4(ADGRV1):c.17960G>A (p.Trp5987Ter)

SNV
Germline

Chr5:90965518

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360426970

rs_2531504436

1 SubmittersRCV003577585

NM_032119.4(ADGRV1):c.3679C>T (p.Gln1227Ter)

SNV
Germline

Chr5:90653253

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360398358

rs_1170578408

1 SubmittersRCV003572811

NM_032119.4(ADGRV1):c.9717G>A (p.Trp3239Ter)

SNV
Germline

Chr5:90721028

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360400990

rs_2531270458

1 SubmittersRCV003552293

NM_032119.4(ADGRV1):c.8197C>T (p.Arg2733Ter)

SNV
Germline

Chr5:90703706

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360388823

rs_1463244885

1 SubmittersRCV003552344

NM_032119.4(ADGRV1):c.4080G>A (p.Trp1360Ter)

SNV
Germline

Chr5:90653654

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA121839869

rs_867701145

1 SubmittersRCV003545345

NM_032119.4(ADGRV1):c.13654-2A>G

SNV
Germline

Chr5:90788069

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360396433

rs_1228453160

1 SubmittersRCV003551185

NM_032119.4(ADGRV1):c.6106C>T (p.Gln2036Ter)

SNV
Germline

Chr5:90684027

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360414139

rs_2530824762

1 SubmittersRCV003551189

NM_032119.4(ADGRV1):c.8156-1G>A

SNV
Germline

Chr5:90703664

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360388530

rs_1414878464

1 SubmittersRCV003545139

NM_032119.4(ADGRV1):c.3469T>C (p.Phe1157Leu)

SNV
Germline

Chr5:90652398

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA121839387

rs_932681759

2 SubmittersRCV003546192

NM_032119.4(ADGRV1):c.1432G>T (p.Glu478Ter)

SNV
Germline

Chr5:90628755

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360372521

rs_1438790668

1 SubmittersRCV003557118

NM_032119.4(ADGRV1):c.4488T>G (p.Tyr1496Ter)

SNV
Germline

Chr5:90658014

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360403776

rs_772002335

1 SubmittersRCV003555128

NM_032119.4(ADGRV1):c.3022+2T>G

SNV
Germline

Chr5:90646093

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360392945

rs_2532013596

1 SubmittersRCV003555194

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_032119.4(ADGRV1):c.17488C>T (p.Gln5830Ter)

SNV
Germline

Chr5:90854095

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360430494

rs_1358854063

1 SubmittersRCV003555199

NM_032119.4(ADGRV1):c.558+1G>T

SNV
Germline

Chr5:90622702

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360363726

rs_1277671151

1 SubmittersRCV003560312

NM_032119.4(ADGRV1):c.4709A>G (p.Asn1570Ser)

SNV
Germline

Chr5:90658235

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3339392

rs_746779107

2 SubmittersRCV003575822 RCV005323489

NM_032119.4(ADGRV1):c.1837C>T (p.Gln613Ter)

SNV
Germline

Chr5:90629537

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360376773

rs_199587998

1 SubmittersRCV003570569

NM_032119.4(ADGRV1):c.12906C>A (p.Tyr4302Ter)

SNV
Germline

Chr5:90778921

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360389192

rs_1561712232

1 SubmittersRCV003575735

NM_032119.4(ADGRV1):c.17763C>A (p.Cys5921Ter)

SNV
Germline

Chr5:90863764

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360431127

rs_1162166308

1 SubmittersRCV003564044

NM_032119.4(ADGRV1):c.10549+1G>A

SNV
Germline

Chr5:90729765

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360406003

rs_2531381385

1 SubmittersRCV003572012

NM_032119.4(ADGRV1):c.6707-1G>T

SNV
Germline

Chr5:90690796

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360367183

rs_2530903802

1 SubmittersRCV003572088

NM_032119.4(ADGRV1):c.13231+1G>A

SNV
Germline

Chr5:90781579

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360392248

rs_2531903536

1 SubmittersRCV003570677

NM_032119.4(ADGRV1):c.8182A>T (p.Arg2728Ter)

SNV
Germline

Chr5:90703691

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360388777

rs_1472049250

1 SubmittersRCV003571027

NM_032119.4(ADGRV1):c.13433+2T>C

SNV
Germline

Chr5:90783327

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360394512

rs_2531927990

1 SubmittersRCV003564393

NM_032119.4(ADGRV1):c.18625-2A>G

SNV
Germline

Chr5:91153219

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360432428

rs_2533410765

1 SubmittersRCV003565283

NM_032119.4(ADGRV1):c.12691G>T (p.Glu4231Ter)

SNV
Germline

Chr5:90778451

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360387742

rs_1758488707

1 SubmittersRCV003578262

NM_032119.4(ADGRV1):c.8515G>T (p.Glu2839Ter)

SNV
Germline

Chr5:90705528

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360391457

rs_2531081710

1 SubmittersRCV003576300

NM_032119.4(ADGRV1):c.14517+1G>T

SNV
Germline

Chr5:90791347

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360403016

rs_2532013251

1 SubmittersRCV003578942

NM_032119.4(ADGRV1):c.16061C>T (p.Ala5354Val)

SNV
Germline

Chr5:90811321

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3342029

rs_547343648

2 SubmittersRCV003660232 RCV004980900

NM_032119.4(ADGRV1):c.8892G>A (p.Trp2964Ter)

SNV
Germline

Chr5:90711048

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360395430

rs_2531143837

1 SubmittersRCV003664715

NM_032119.4(ADGRV1):c.6776T>C (p.Ile2259Thr)

SNV
Germline

Chr5:90690866

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3339872

rs_769757245

2 SubmittersRCV003671658

NM_032119.4(ADGRV1):c.6436G>C (p.Ala2146Pro)

SNV
Germline

Chr5:90685941

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA360363858

rs_967810918

2 SubmittersRCV003665663 RCV004980898

NM_032119.4(ADGRV1):c.18334T>C (p.Phe6112Leu)

SNV
Germline

Chr5:91102242

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA123027066

rs_1015832236

2 SubmittersRCV003659952 RCV005407203

NM_032119.4(ADGRV1):c.12528-17T>G

SNV
Germline

Chr5:90777888

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA560906525

rs_1362592984

1 SubmittersRCV003660004

NM_032119.4(ADGRV1):c.10084C>T (p.Gln3362Ter)

SNV
Germline

Chr5:90725579

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360403228

rs_1580887937

1 SubmittersRCV003665493

NM_032119.4(ADGRV1):c.17988G>A (p.Trp5996Ter)

SNV
Germline

Chr5:90985358

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360429067

rs_1780401677

1 SubmittersRCV003670127

NM_032119.4(ADGRV1):c.8355C>A (p.Tyr2785Ter)

SNV
Germline

Chr5:90704457

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360389962

rs_762598540

1 SubmittersRCV003672389

NM_032119.4(ADGRV1):c.3908T>A (p.Leu1303Ter)

SNV
Germline

Chr5:90653482

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360399782

rs_2532087304

1 SubmittersRCV003670633

NM_032119.4(ADGRV1):c.7819G>T (p.Glu2607Ter)

SNV
Germline

Chr5:90694575

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360381688

rs_2530957121

1 SubmittersRCV003673274

NM_032119.4(ADGRV1):c.18379G>A (p.Ala6127Thr)

SNV
Germline

Chr5:91102287

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA123027083

rs_571986845

2 SubmittersRCV003682140 RCV004371639

NM_032119.4(ADGRV1):c.6248T>G (p.Leu2083Ter)

SNV
Germline

Chr5:90684169

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360414448

rs_1173328630

1 SubmittersRCV003678003

NM_032119.4(ADGRV1):c.4139G>A (p.Ser1380Asn)

SNV
Germline

Chr5:90653713

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA360401548

rs_1193645872

2 SubmittersRCV003684051

NM_032119.4(ADGRV1):c.3457T>C (p.Ser1153Pro)

SNV
Germline

Chr5:90652386

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3339193

rs_768160441

2 SubmittersRCV003684477 RCV004980910

NM_032119.4(ADGRV1):c.11518G>T (p.Glu3840Ter)

SNV
Germline

Chr5:90755123

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360367067

rs_1755691727

1 SubmittersRCV003686341

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_032119.4(ADGRV1):c.6908T>A (p.Leu2303Ter)

SNV
Germline

Chr5:90690998

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360369590

rs_759707174

1 SubmittersRCV003681102

NM_032119.4(ADGRV1):c.10777G>T (p.Glu3593Ter)

SNV
Germline

Chr5:90745598

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360408794

rs_1754531788

1 SubmittersRCV003711718

NM_032119.4(ADGRV1):c.15889C>T (p.Gln5297Ter)

SNV
Germline

Chr5:90811149

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360411242

rs_2532192621

1 SubmittersRCV003711844

NM_032119.4(ADGRV1):c.16611+1G>A

SNV
Germline

Chr5:90829187

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360427563

rs_1468626678

1 SubmittersRCV003678844

NM_032119.4(ADGRV1):c.5983C>T (p.Gln1995Ter)

SNV
Germline

Chr5:90683904

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360413878

rs_2530823306

1 SubmittersRCV003689482

NM_032119.4(ADGRV1):c.10772C>G (p.Ser3591Ter)

SNV
Germline

Chr5:90745593

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360408776

rs_75732872

1 SubmittersRCV003723392

NM_032119.4(ADGRV1):c.2553+1G>A

SNV
Germline

Chr5:90643042

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360388808

rs_764676359

1 SubmittersRCV003692477

NM_032119.4(ADGRV1):c.11683G>T (p.Gly3895Ter)

SNV
Germline

Chr5:90756556

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360369505

rs_779635749

1 SubmittersRCV003695052

NM_032119.4(ADGRV1):c.3102C>A (p.Cys1034Ter)

SNV
Germline

Chr5:90647577

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360393283

rs_2532029941

1 SubmittersRCV003723935

NM_032119.4(ADGRV1):c.17950C>T (p.Gln5984Ter)

SNV
Germline

Chr5:90965508

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360426925

rs_2531504282

1 SubmittersRCV003687911

NM_032119.4(ADGRV1):c.10595G>A (p.Trp3532Ter)

SNV
Germline

Chr5:90745091

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360407689

rs_2531537816

1 SubmittersRCV003699212

NM_032119.4(ADGRV1):c.10603G>T (p.Glu3535Ter)

SNV
Germline

Chr5:90745099

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360407762

rs_2531538042

1 SubmittersRCV003700324

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_032119.4(ADGRV1):c.14973-1G>A

SNV
Germline

Chr5:90810232

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360407016

rs_1484257921

1 SubmittersRCV003710067

NM_032119.4(ADGRV1):c.8221A>T (p.Lys2741Ter)

SNV
Germline

Chr5:90703730

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA3340194

rs_773579328

1 SubmittersRCV003707385

NM_032119.4(ADGRV1):c.14334C>A (p.Asn4778Lys)

SNV
Germline

Chr5:90791163

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3341709

rs_762273997

2 SubmittersRCV003727112

NM_032119.4(ADGRV1):c.10648G>T (p.Asp3550Tyr)

SNV
Germline

Chr5:90745144

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3340803

rs_186047961

2 SubmittersRCV003734035 RCV004374190

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.11385C>G (p.Thr3795=)

SNV
Germline

Chr5:90754990

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3340965

rs_535263649

3 SubmittersRCV003819735 RCV005407264

NM_032119.4(ADGRV1):c.8155+1G>T

SNV
Germline

Chr5:90697147

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360386850

rs_1179484173

1 SubmittersRCV003822606

NM_032119.4(ADGRV1):c.17832G>T (p.Met5944Ile)

SNV
Germline

Chr5:90863833

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3342465

rs_764231534

2 SubmittersRCV003833128

NM_032119.4(ADGRV1):c.9749-1G>T

SNV
Germline

Chr5:90724831

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA3340592

rs_747541782

1 SubmittersRCV003832332

NM_032119.4(ADGRV1):c.17914G>A (p.Ala5972Thr)

SNV
Germline

Chr5:90965472

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3342506

rs_771239507

2 SubmittersRCV003848563

NM_032119.4(ADGRV1):c.13198A>G (p.Ile4400Val)

SNV
Germline

Chr5:90781545

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA360392078

rs_1198218816

2 SubmittersRCV003847220 RCV004981099

NM_032119.4(ADGRV1):c.23-1G>A

SNV
Germline

Chr5:90614834

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360381746

rs_2531675868

1 SubmittersRCV003847346

NM_032119.4(ADGRV1):c.4885A>G (p.Asn1629Asp)

SNV
Germline

Chr5:90672678

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3339431

rs_141346393

2 SubmittersRCV003855464 RCV004366982

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.6815G>A (p.Trp2272Ter)

SNV
Germline

Chr5:90690905

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360368043

rs_2530906062

1 SubmittersRCV003863439

NM_032119.4(ADGRV1):c.1576C>T (p.Gln526Ter)

SNV
Germline

Chr5:90629276

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360373425

rs_980935587

1 SubmittersRCV003863795

NM_032119.4(ADGRV1):c.12297G>C (p.Gln4099His)

SNV
Germline

Chr5:90774197

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA3341211

rs_767081312

3 SubmittersRCV003854490 RCV004614555 RCV005063191

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_032119.4(ADGRV1):c.3855G>A (p.Trp1285Ter)

SNV
Germline

Chr5:90653429

Pathogenic/Likely pathogenic

Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA121839749

rs_1028784575

2 SubmittersRCV003860248

NM_032119.4(ADGRV1):c.2437C>T (p.Arg813Ter)

SNV
Germline

Chr5:90642925

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360387968

rs_1214672768

1 SubmittersRCV003866007

NM_032119.4(ADGRV1):c.16273A>G (p.Asn5425Asp)

SNV
Germline

Chr5:90823501

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3342104

rs_764133411

2 SubmittersRCV003872892

NM_032119.4(ADGRV1):c.4664C>T (p.Ser1555Leu)

SNV
Germline

Chr5:90658190

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3339382

rs_762055707

2 SubmittersRCV003880891 RCV004614570

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_032119.4(ADGRV1):c.14789T>G (p.Leu4930Ter)

SNV
Germline

Chr5:90805411

Likely pathogenic

Febrile seizures, familial, 4

Criteria Provided
Single Submitter

CA360406338

rs_2532140040

1 SubmittersRCV003990431

NM_032119.4(ADGRV1):c.15916G>T (p.Gly5306Ter)

SNV
Germline

Chr5:90811176

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA360411296

rs_2532192952

1 SubmittersRCV004547009

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_032119.4(ADGRV1):c.10426+5G>A

SNV
Germline

Chr5:90728938

Likely pathogenic

Retinal dystrophy

No Assertion Criteria Provided

1 SubmittersRCV004818565

NM_032119.4(ADGRV1):c.4112T>C (p.Ile1371Thr)

SNV
Germline

Chr5:90653686

Likely pathogenic

Retinal dystrophy

No Assertion Criteria Provided

1 SubmittersRCV004818642

NM_032119.4(ADGRV1):c.4917G>A (p.Trp1639Ter)

SNV
Germline

Chr5:90672710

Pathogenic

Retinal dystrophy

No Assertion Criteria Provided

1 SubmittersRCV004814118

NM_032119.4(ADGRV1):c.15262G>T (p.Glu5088Ter)

SNV
Germline

Chr5:90810522

Pathogenic

Retinal dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV004814266

NM_032119.4(ADGRV1):c.7407G>A (p.Trp2469Ter)

SNV
Germline

Chr5:90694163

Pathogenic

Retinal dystrophy

No Assertion Criteria Provided

1 SubmittersRCV004814270

NM_032119.4(ADGRV1):c.14965C>T (p.Gln4989Ter)

SNV
Germline

Chr5:90807730

Pathogenic

Retinal dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV004816138

NM_032119.4(ADGRV1):c.2898+1G>T

SNV
Germline

Chr5:90644870

Pathogenic

Retinal dystrophy

No Assertion Criteria Provided

1 SubmittersRCV004817680

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_032119.4(ADGRV1):c.3823C>T (p.Gln1275Ter)

SNV
Germline

Chr5:90653397

Likely pathogenic

ADGRV1-related disorder

No Assertion Criteria Provided

1 SubmittersRCV004724703

NM_032119.4(ADGRV1):c.16694C>T (p.Thr5565Ile)

SNV
Germline

Chr5:90840660

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004773873

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_032119.4(ADGRV1):c.18639G>A (p.Trp6213Ter)

SNV
Germline

Chr5:91153235

Likely pathogenic

Febrile seizures, familial, 4

Criteria Provided
Single Submitter

1 SubmittersRCV004813491

NM_032119.4(ADGRV1):c.3795T>A (p.Tyr1265Ter)

SNV
Germline

Chr5:90653369

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

1 SubmittersRCV005419842

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_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_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_032119.4(ADGRV1):c.891T>G (p.Asp297Glu)

SNV
Germline

Chr5:90627429

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005063916 RCV005559828

NM_032119.4(ADGRV1):c.13082+1G>A

SNV
Germline

Chr5:90779098

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005067518

NM_032119.4(ADGRV1):c.17973+1G>A

SNV
Germline

Chr5:90965532

Likely pathogenic

ADGRV1-related disorder

Criteria Provided
Single Submitter

1 SubmittersRCV005088310

NM_032119.4(ADGRV1):c.16909C>T (p.Gln5637Ter)

SNV
Germline

Chr5:90840875

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005119272

NM_032119.4(ADGRV1):c.4272G>A (p.Trp1424Ter)

SNV
Germline

Chr5:90653846

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005118683

NM_032119.4(ADGRV1):c.14659C>T (p.Gln4887Ter)

SNV
Germline

Chr5:90802880

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005130779

NM_032119.4(ADGRV1):c.2016+1G>T

SNV
Germline

Chr5:90635291

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005123886

NM_032119.4(ADGRV1):c.9447+1G>T

SNV
Germline

Chr5:90716730

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005135917

NM_032119.4(ADGRV1):c.4332A>G (p.Ala1444=)

SNV
Germline

Chr5:90653906

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005148460

NM_032119.4(ADGRV1):c.17594+1G>T

SNV
Germline

Chr5:90854202

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005155345

NM_032119.4(ADGRV1):c.15175C>T (p.Gln5059Ter)

SNV
Germline

Chr5:90810435

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005180742

NM_032119.4(ADGRV1):c.453+1G>A

SNV
Germline

Chr5:90619182

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005201668

NM_032119.4(ADGRV1):c.8220G>A (p.Trp2740Ter)

SNV
Germline

Chr5:90703729

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005186965

NM_032119.4(ADGRV1):c.12598G>T (p.Glu4200Ter)

SNV
Germline

Chr5:90777975

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005194479

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_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_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_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_032119.4(ADGRV1):c.3438C>G (p.Tyr1146Ter)

SNV
Germline

Chr5:90652367

Pathogenic

Usher syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005409281

NM_032119.4(ADGRV1):c.4458T>G (p.Tyr1486Ter)

SNV
Germline

Chr5:90657984

Pathogenic

Usher syndrome type 2C

No Assertion Criteria Provided

1 SubmittersRCV005621361