Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_153676.4(USH1C):c.1823C>G (p.Pro608Arg)	SNV Germline	Chr11:17509546	Conflicting classifications of pathogenicity	Autosomal recessive nonsyndromic hearing loss 18A not specified Condition: not provided Usher syndrome type 1C Usher syndrome type 1C Usher syndrome type 1 Autosomal recessive nonsyndromic hearing loss 18A Retinal dystrophy Meniere disease Optic atrophy	Criteria Provided Conflicting Classifications	CA142309	rs_41282932	10 SubmittersRCV000005455 RCV000041259 RCV000755427 RCV001276292 RCV005394121 RCV004814837 RCV001797045 RCV004814838
NM_000260.4(MYO7A):c.2617C>T (p.Arg873Trp)	SNV Germline	Chr11:77180404	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1 Autosomal dominant nonsyndromic hearing loss 11 Usher syndrome type 1B Meniere disease MYO7A-related disorder	Criteria Provided Conflicting Classifications	CA132257	rs_200454015	11 SubmittersRCV000036091 RCV000724180 RCV000988606 RCV001110090 RCV001114121 RCV001276694 RCV001526685 RCV004734541
NM_022124.6(CDH23):c.3845A>G (p.Asn1282Ser)	SNV Germline	Chr10:71732116	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 1D Autosomal recessive nonsyndromic hearing loss 12 Usher syndrome type 1 Meniere disease	Criteria Provided Conflicting Classifications	CA137396	rs_149073355	11 SubmittersRCV000039165 RCV000950191 RCV001103712 RCV001103711 RCV001272567 RCV001797050
NM_032119.4(ADGRV1):c.7582C>T (p.Pro2528Ser)	SNV Germline	Chr5:90694338	Conflicting classifications of pathogenicity	not specified Condition: not provided Usher syndrome type 2C Meniere disease	Criteria Provided Conflicting Classifications	CA138220	rs_201733037	12 SubmittersRCV000039633 RCV000710461 RCV001155423 RCV001797051
NM_006005.3(WFS1):c.1294C>G (p.Leu432Val)	SNV Germline	Chr4:6301089	Conflicting classifications of pathogenicity	not specified WFS1-Related Spectrum Disorders Condition: not provided Monogenic diabetes Wolfram syndrome 1 Autosomal dominant nonsyndromic hearing loss 6 Meniere disease	Criteria Provided Conflicting Classifications	CA295801	rs_35031397	16 SubmittersRCV000155411 RCV000351887 RCV000415767 RCV000445544 RCV000987408 RCV001157342 RCV004567069
NM_001329752.2(FAM136A):c.547C>T (p.Gln183Ter)	SNV Germline	Chr2:70300842	Pathogenic	Meniere disease	Criteria Provided Single Submitter	CA174976	rs_690016537	1 SubmittersRCV000149519
NM_001386795.1(DTNA):c.2224G>T (p.Val742Phe)	SNV Germline	Chr18:34882130	Conflicting classifications of pathogenicity	Meniere disease Condition: not provided Left ventricular noncompaction 1	Criteria Provided Conflicting Classifications	CA174978	rs_533568822	4 SubmittersRCV000149520 RCV001508826 RCV001849917
NM_005422.4(TECTA):c.4481T>C (p.Val1494Ala)	SNV Germline	Chr11:121158016	Conflicting classifications of pathogenicity	not specified Autosomal recessive nonsyndromic hearing loss 21 Autosomal dominant nonsyndromic hearing loss 12 Condition: not provided Meniere disease	Criteria Provided Conflicting Classifications	CA185821	rs_200544452	7 SubmittersRCV000156907 RCV000326930 RCV000381584 RCV000756761 RCV002267729
NM_000260.4(MYO7A):c.6247G>A (p.Ala2083Thr)	SNV Germline	Chr11:77211830	Conflicting classifications of pathogenicity	not specified Usher syndrome type 1 Autosomal dominant nonsyndromic hearing loss 11 Autosomal dominant nonsyndromic hearing loss 11 Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1 Condition: not provided Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1B Meniere disease Inborn genetic diseases Hearing impairment	Criteria Provided Conflicting Classifications	CA182438	rs_41298759	12 SubmittersRCV000155244 RCV000290561 RCV000386123 RCV000765019 RCV001034255 RCV001089552 RCV001274807 RCV001526687 RCV004019859 RCV005625338
NM_002473.6(MYH9):c.4225G>A (p.Asp1409Asn)	SNV Germline	Chr22:36292105	Conflicting classifications of pathogenicity	not specified MYH9-related disorder Autosomal dominant nonsyndromic hearing loss 17 Condition: not provided Meniere disease	Criteria Provided Conflicting Classifications	CA177099	rs_34292387	10 SubmittersRCV000151333 RCV000291994 RCV000386272 RCV000724779 RCV004567172
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter)	SNV Germline	Chr4:6277579	Pathogenic/Likely pathogenic	Wolfram syndrome 1 Autosomal dominant nonsyndromic hearing loss 6 Wolfram syndrome 1 Wolfram-like syndrome Condition: not provided Type 2 diabetes mellitus Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus Cataract 41 Wolfram syndrome 1 Wolfram-like syndrome Wolfram syndrome 1 Wolfram-like syndrome Inborn genetic diseases WFS1-related disorder Meniere disease	Criteria Provided Multiple Submitters No Conflicts	CA274502	rs_71530923	16 SubmittersRCV000169684 RCV000509458 RCV000514926 RCV001199167 RCV001536034 RCV002467643 RCV002515205 RCV004528924 RCV004567372
NM_000081.4(LYST):c.6710A>C (p.Gln2237Pro)	SNV Germline	Chr1:235759143	Conflicting classifications of pathogenicity	not specified Chédiak-Higashi syndrome Condition: not provided Autoinflammatory syndrome LYST-related disorder Inborn genetic diseases Meniere disease	Criteria Provided Conflicting Classifications	CA205722	rs_138443479	12 SubmittersRCV000192717 RCV000329381 RCV001354479 RCV002262789 RCV003917758 RCV004020323 RCV004567394
NM_002470.4(MYH3):c.875C>G (p.Ser292Cys)	SNV Germline	Chr17:10647205	Conflicting classifications of pathogenicity	not specified Rhabdomyolysis Distal arthrogryposis type 2B1 Condition: not provided MYH3-related disorder Meniere disease Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A Freeman-Sheldon syndrome Arthrogryposis, distal, type 2B3 Contractures, pterygia, and variable skeletal fusions syndrome 1B	Criteria Provided Conflicting Classifications	CA209607	rs_139480342	7 SubmittersRCV000195045 RCV000662290 RCV001127113 RCV001522905 RCV004541247 RCV004567395 RCV005396572
NM_001148.6(ANK2):c.8144C>T (p.Ser2715Phe)	SNV Germline	Chr4:113356762	Conflicting classifications of pathogenicity	Long QT syndrome Condition: not provided Cardiac arrhythmia, ankyrin-B-related Cardiovascular phenotype Meniere disease	Criteria Provided Conflicting Classifications	CA336737	rs_147619875	6 SubmittersRCV000196821 RCV000486245 RCV001145633 RCV002415855 RCV004567438
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_001148.6(ANK2):c.10805G>A (p.Arg3602Gln)	SNV Germline	Chr4:113363386	Conflicting classifications of pathogenicity	Cardiovascular phenotype Long QT syndrome Cardiac arrhythmia, ankyrin-B-related Condition: not provided Meniere disease	Criteria Provided Conflicting Classifications	CA3052138	rs_374991526	5 SubmittersRCV000243213 RCV000631583 RCV002487152 RCV003326393 RCV004567805
NM_002334.4(LRP4):c.5660C>G (p.Ser1887Cys)	SNV Germline	Chr11:46859041	Conflicting classifications of pathogenicity	Condition: not provided Cenani-Lenz syndactyly syndrome Sclerosteosis 2 Congenital myasthenic syndrome 17 Cenani-Lenz syndactyly syndrome LRP4-related disorder Meniere disease	Criteria Provided Conflicting Classifications	CA5968969	rs_149082597	9 SubmittersRCV000360139 RCV000524562 RCV001107019 RCV004535290 RCV004567827
NM_001365951.3(KIF1B):c.146C>A (p.Ser49Tyr)	SNV Germline	Chr1:10256286	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth disease Condition: not provided not specified Meniere disease Neuroblastoma Pheochromocytoma	Criteria Provided Conflicting Classifications	CA580622	rs_143654307	8 SubmittersRCV000383160 RCV001173603 RCV003480578 RCV004021327 RCV004567840 RCV000347279 RCV005055103
NM_001854.4(COL11A1):c.4594C>G (p.Pro1532Ala)	SNV Germline	Chr1:102888591	Conflicting classifications of pathogenicity	Stickler syndrome type 2 Fibrochondrogenesis 1 Condition: not provided Meniere disease	Criteria Provided Conflicting Classifications	CA973471	rs_140954784	4 SubmittersRCV000279813 RCV000338595 RCV001660559 RCV004567841
NM_001854.4(COL11A1):c.328G>C (p.Gly110Arg)	SNV Germline	Chr1:103078818	Conflicting classifications of pathogenicity	Stickler syndrome type 2 Condition: not provided COL11A1-related disorder not specified Meniere disease Fibrochondrogenesis 1 Connective tissue disorder	Criteria Provided Conflicting Classifications	CA975481	rs_141978499	11 SubmittersRCV000351685 RCV000513856 RCV004537629 RCV005431600 RCV004567844 RCV000404285 RCV000680462
NM_001854.4(COL11A1):c.1427G>A (p.Arg476His)	SNV Germline	Chr1:103015729	Conflicting classifications of pathogenicity	Fibrochondrogenesis 1 Stickler syndrome type 2 Condition: not provided COL11A1-related disorder Meniere disease	Criteria Provided Conflicting Classifications	CA974978	rs_149558726	6 SubmittersRCV000275597 RCV000330638 RCV000494431 RCV004737428 RCV004567842
NM_001854.4(COL11A1):c.698A>G (p.Tyr233Cys)	SNV Germline	Chr1:103031198	Conflicting classifications of pathogenicity	Stickler syndrome type 2 Fibrochondrogenesis 1 Connective tissue disorder not specified Meniere disease Condition: not provided	Criteria Provided Conflicting Classifications	CA975345	rs_141304474	6 SubmittersRCV000287951 RCV000403940 RCV002278329 RCV004525918 RCV004567843 RCV001660560
NM_000081.4(LYST):c.4705A>C (p.Asn1569His)	SNV Germline	Chr1:235787357	Conflicting classifications of pathogenicity	Chédiak-Higashi syndrome Condition: not provided Autoinflammatory syndrome LYST-related disorder Inborn genetic diseases Meniere disease	Criteria Provided Conflicting Classifications	CA1466767	rs_767687843	10 SubmittersRCV000309417 RCV000788549 RCV002262932 RCV003940114 RCV004021440 RCV004567847
NM_001852.4(COL9A2):c.1834G>A (p.Gly612Arg)	SNV Germline	Chr1:40301848	Conflicting classifications of pathogenicity	Epiphyseal dysplasia, multiple, 2 Condition: not provided COL9A2-related disorder Meniere disease not specified	Criteria Provided Conflicting Classifications	CA791313	rs_142151614	7 SubmittersRCV000335526 RCV000657851 RCV003422216 RCV004567848 RCV004586671
NM_000092.5(COL4A4):c.4678C>T (p.Arg1560Cys)	SNV Germline	Chr2:227008149	Conflicting classifications of pathogenicity	Alport syndrome Autosomal dominant Alport syndrome Inborn genetic diseases Autosomal recessive Alport syndrome Condition: not provided Meniere disease	Criteria Provided Conflicting Classifications	CA2144098	rs_200973262	10 SubmittersRCV000342956 RCV001029898 RCV001265753 RCV001330986 RCV001770271 RCV004567864
NM_000260.4(MYO7A):c.2057G>A (p.Arg686His)	SNV Germline	Chr11:77174877	Conflicting classifications of pathogenicity	Autosomal recessive nonsyndromic hearing loss 2 Autosomal dominant nonsyndromic hearing loss 11 Usher syndrome type 1 Condition: not provided Meniere disease Usher syndrome type 1B Autosomal dominant nonsyndromic hearing loss 11 Usher syndrome type 1 Autosomal recessive nonsyndromic hearing loss 2 MYO7A-related disorder	Criteria Provided Conflicting Classifications	CA6197677	rs_781991817	7 SubmittersRCV000295997 RCV000344917 RCV000380863 RCV001048255 RCV001526683 RCV001833447 RCV005396937 RCV004725160
NM_000260.4(MYO7A):c.2507G>A (p.Arg836His)	SNV Germline	Chr11:77179874	Conflicting classifications of pathogenicity	Usher syndrome type 1 Autosomal recessive nonsyndromic hearing loss 2 Autosomal dominant nonsyndromic hearing loss 11 Condition: not provided Meniere disease Usher syndrome type 1B MYO7A-related disorder	Criteria Provided Conflicting Classifications	CA6197856	rs_782179888	7 SubmittersRCV000276334 RCV000333807 RCV000363893 RCV001207535 RCV001526684 RCV001833449 RCV004734969
NM_018451.5(CPAP):c.2785A>G (p.Lys929Glu)	SNV Germline	Chr13:24903966	Conflicting classifications of pathogenicity	Seckel syndrome 4 Microcephaly 6, primary, autosomal recessive Condition: not provided Meniere disease	Criteria Provided Conflicting Classifications	CA6919518	rs_141844033	3 SubmittersRCV000334398 RCV000394810 RCV002056367 RCV004567854
NM_002470.4(MYH3):c.248C>G (p.Pro83Arg)	SNV Germline	Chr17:10652520	Conflicting classifications of pathogenicity	Distal arthrogryposis type 2B1 Freeman-Sheldon syndrome MYH3-related disorder Condition: not provided Meniere disease Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8393364	rs_199513213	5 SubmittersRCV000303165 RCV000408004 RCV000791001 RCV002522912 RCV004567862 RCV006362271
NM_006005.3(WFS1):c.2053C>T (p.Arg685Cys)	SNV Germline	Chr4:6301848	Conflicting classifications of pathogenicity	Monogenic diabetes Condition: not provided Wolfram syndrome 1 Autosomal dominant nonsyndromic hearing loss 6 WFS1-related disorder Wolfram-like syndrome Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus Cataract 41 Wolfram syndrome 1 Meniere disease Optic atrophy	Criteria Provided Conflicting Classifications	CA2839583	rs_112967046	10 SubmittersRCV000445499 RCV001351930 RCV002250628 RCV004668975 RCV004529580 RCV005033963 RCV004567928 RCV004816668
NM_001852.4(COL9A2):c.2059A>G (p.Lys687Glu)	SNV Germline	Chr1:40301193	Conflicting classifications of pathogenicity	Epiphyseal dysplasia, multiple, 2 Stickler syndrome, type 5 Intervertebral disc disorder Epiphyseal dysplasia, multiple, 2 Condition: not provided Meniere disease COL9A2-related disorder not specified	Criteria Provided Conflicting Classifications	CA791246	rs_201847956	7 SubmittersRCV000477829 RCV001100678 RCV001489852 RCV004568139 RCV004740252 RCV005239060
NM_206996.4(SPAG17):c.1069G>C (p.Asp357His)	SNV Germline	Chr1:118093260	Likely pathogenic	Cranioectodermal dysplasia 2 Meniere disease	Criteria Provided Single Submitter	CA1034400	rs_183758503	2 SubmittersRCV000504571 RCV004568643
NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro)	SNV Germline	Chr11:77172799	Likely pathogenic	Usher syndrome Autosomal recessive nonsyndromic hearing loss 2 Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1 Hearing loss, autosomal recessive Nonsyndromic genetic hearing loss Condition: not provided Meniere disease Usher syndrome type 1	Reviewed By Expert Panel	CA6197628	rs_782063761	8 SubmittersRCV000504967 RCV000681537 RCV000670176 RCV001291471 RCV004595510 RCV003558426 RCV006254081 RCV005623076
NM_000260.4(MYO7A):c.3G>A (p.Met1Ile)	SNV Germline	Chr11:77130637	Pathogenic/Likely pathogenic	Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1 Condition: not provided Meniere disease Usher syndrome type 1B Autosomal dominant nonsyndromic hearing loss 11 Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1	Criteria Provided Multiple Submitters No Conflicts	CA6196971	rs_782787126	5 SubmittersRCV000668632 RCV001203639 RCV001526681 RCV001829848 RCV005004336
NM_000260.4(MYO7A):c.617G>A (p.Arg206His)	SNV Germline	Chr11:77156886	Conflicting classifications of pathogenicity	not specified Autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1 Condition: not provided Usher syndrome type 1B Meniere disease	Criteria Provided Conflicting Classifications	CA6197204	rs_781998354	6 SubmittersRCV000825983 RCV001109567 RCV001113579 RCV001245266 RCV001275895 RCV006254166
NM_000092.5(COL4A4):c.4522G>A (p.Gly1508Ser)	SNV Germline	Chr2:227010313	Likely pathogenic	Autosomal dominant Alport syndrome Condition: not provided Meniere disease Hematuria	Criteria Provided Multiple Submitters No Conflicts	CA66541319	rs_1003748020	4 SubmittersRCV001029868 RCV001862424 RCV004570083 RCV006454713
NM_000092.5(COL4A4):c.1055C>T (p.Pro352Leu)	SNV Germline	Chr2:227099664	Conflicting classifications of pathogenicity	Condition: not provided Alport syndrome Inborn genetic diseases Meniere disease COL4A4-related disorder not specified Autosomal recessive Alport syndrome Hematuria, benign familial, 1 Autosomal recessive Alport syndrome	Criteria Provided Conflicting Classifications	CA2145299	rs_371717486	9 SubmittersRCV001040564 RCV001274060 RCV002551476 RCV004570128 RCV004738127 RCV004800666 RCV005021355 RCV005051847
NM_002470.4(MYH3):c.347A>G (p.Tyr116Cys)	SNV Germline	Chr17:10652421	Conflicting classifications of pathogenicity	Freeman-Sheldon syndrome Distal arthrogryposis type 2B1 Condition: not provided Meniere disease Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8393340	rs_147024680	4 SubmittersRCV001127224 RCV001127223 RCV002556780 RCV004570323 RCV005682493
NM_005908.4(MANBA):c.1922G>A (p.Arg641His)	SNV Germline	Chr4:102639805	Conflicting classifications of pathogenicity	Intellectual disability Beta-D-mannosidosis Condition: not provided Meniere disease	Criteria Provided Conflicting Classifications	CA3026755	rs_569997475	7 SubmittersRCV001252566 RCV001264746 RCV001786457 RCV004570645
NM_000260.4(MYO7A):c.4635G>A (p.Trp1545Ter)	SNV Germline	Chr11:77199601	Likely pathogenic	Meniere disease	Criteria Provided Single Submitter	CA224849261	rs_918353878	1 SubmittersRCV001526686
NM_000092.5(COL4A4):c.3434G>A (p.Gly1145Glu)	SNV Germline	Chr2:227042219	Conflicting classifications of pathogenicity	Condition: not provided Alport syndrome Meniere disease Autosomal recessive Alport syndrome Hematuria, benign familial, 1	Criteria Provided Conflicting Classifications	CA350838295	rs_1260916310	4 SubmittersRCV001343800 RCV001831101 RCV004570825 RCV005014457
NM_001854.4(COL11A1):c.2231A>G (p.Lys744Arg)	SNV Germline	Chr1:102997090	Conflicting classifications of pathogenicity	Condition: not provided Hearing loss, autosomal dominant 37 Meniere disease	Criteria Provided Conflicting Classifications	CA974538	rs_775660447	4 SubmittersRCV001365868 RCV004821308 RCV004570890
NM_022124.6(CDH23):c.6512G>A (p.Arg2171His)	SNV Germline	Chr10:71793440	Conflicting classifications of pathogenicity	Meniere disease Condition: not provided	Criteria Provided Conflicting Classifications	CA5546097	rs_531513127	3 SubmittersRCV001797191 RCV002568142
NM_001649.4(SHROOM2):c.631G>A (p.Gly211Ser)	SNV Germline	ChrX:9894539	Likely pathogenic	Meniere disease	Criteria Provided Single Submitter	CA10345244	rs_138558321	1 SubmittersRCV001797192
NM_005908.4(MANBA):c.1499G>A (p.Arg500His)	SNV Germline	Chr4:102657887	Conflicting classifications of pathogenicity	Beta-D-mannosidosis Meniere disease not specified	Criteria Provided Conflicting Classifications	CA3026873	rs_147542645	6 SubmittersRCV002048507 RCV004571983 RCV005238178

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

SNV
Germline

Chr11:17509546

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA142309

rs_41282932

10 SubmittersRCV000005455 RCV000041259 RCV000755427 RCV001276292 RCV005394121 RCV004814837 RCV001797045 RCV004814838

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

SNV
Germline

Chr11:77180404

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA132257

rs_200454015

11 SubmittersRCV000036091 RCV000724180 RCV000988606 RCV001110090 RCV001114121 RCV001276694 RCV001526685 RCV004734541

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

SNV
Germline

Chr10:71732116

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA137396

rs_149073355

11 SubmittersRCV000039165 RCV000950191 RCV001103712 RCV001103711 RCV001272567 RCV001797050

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

SNV
Germline

Chr5:90694338

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA138220

rs_201733037

12 SubmittersRCV000039633 RCV000710461 RCV001155423 RCV001797051

NM_006005.3(WFS1):c.1294C>G (p.Leu432Val)

SNV
Germline

Chr4:6301089

Conflicting classifications of pathogenicity

not specified
WFS1-Related Spectrum Disorders
Condition: not provided
Monogenic diabetes
Wolfram syndrome 1
Autosomal dominant nonsyndromic hearing loss 6
Meniere disease

Criteria Provided
Conflicting Classifications

CA295801

rs_35031397

16 SubmittersRCV000155411 RCV000351887 RCV000415767 RCV000445544 RCV000987408 RCV001157342 RCV004567069

NM_001329752.2(FAM136A):c.547C>T (p.Gln183Ter)

SNV
Germline

Chr2:70300842

Pathogenic

Meniere disease

Criteria Provided
Single Submitter

CA174976

rs_690016537

1 SubmittersRCV000149519

NM_001386795.1(DTNA):c.2224G>T (p.Val742Phe)

SNV
Germline

Chr18:34882130

Conflicting classifications of pathogenicity

Meniere disease
Condition: not provided
Left ventricular noncompaction 1

Criteria Provided
Conflicting Classifications

CA174978

rs_533568822

4 SubmittersRCV000149520 RCV001508826 RCV001849917

NM_005422.4(TECTA):c.4481T>C (p.Val1494Ala)

SNV
Germline

Chr11:121158016

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 21
Autosomal dominant nonsyndromic hearing loss 12
Condition: not provided
Meniere disease

Criteria Provided
Conflicting Classifications

CA185821

rs_200544452

7 SubmittersRCV000156907 RCV000326930 RCV000381584 RCV000756761 RCV002267729

NM_000260.4(MYO7A):c.6247G>A (p.Ala2083Thr)

SNV
Germline

Chr11:77211830

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA182438

rs_41298759

12 SubmittersRCV000155244 RCV000290561 RCV000386123 RCV000765019 RCV001034255 RCV001089552 RCV001274807 RCV001526687 RCV004019859 RCV005625338

NM_002473.6(MYH9):c.4225G>A (p.Asp1409Asn)

SNV
Germline

Chr22:36292105

Conflicting classifications of pathogenicity

not specified
MYH9-related disorder
Autosomal dominant nonsyndromic hearing loss 17
Condition: not provided
Meniere disease

Criteria Provided
Conflicting Classifications

CA177099

rs_34292387

10 SubmittersRCV000151333 RCV000291994 RCV000386272 RCV000724779 RCV004567172

NM_006005.3(WFS1):c.124C>T (p.Arg42Ter)

SNV
Germline

Chr4:6277579

Pathogenic/Likely pathogenic

Wolfram syndrome 1
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1
Wolfram-like syndrome
Condition: not provided
Type 2 diabetes mellitus
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Cataract 41
Wolfram syndrome 1
Wolfram-like syndrome
Wolfram syndrome 1
Wolfram-like syndrome
Inborn genetic diseases
WFS1-related disorder
Meniere disease

Criteria Provided
Multiple Submitters
No Conflicts

CA274502

rs_71530923

16 SubmittersRCV000169684 RCV000509458 RCV000514926 RCV001199167 RCV001536034 RCV002467643 RCV002515205 RCV004528924 RCV004567372

NM_000081.4(LYST):c.6710A>C (p.Gln2237Pro)

SNV
Germline

Chr1:235759143

Conflicting classifications of pathogenicity

not specified
Chédiak-Higashi syndrome
Condition: not provided
Autoinflammatory syndrome
LYST-related disorder
Inborn genetic diseases
Meniere disease

Criteria Provided
Conflicting Classifications

CA205722

rs_138443479

12 SubmittersRCV000192717 RCV000329381 RCV001354479 RCV002262789 RCV003917758 RCV004020323 RCV004567394

NM_002470.4(MYH3):c.875C>G (p.Ser292Cys)

SNV
Germline

Chr17:10647205

Conflicting classifications of pathogenicity

not specified
Rhabdomyolysis
Distal arthrogryposis type 2B1
Condition: not provided
MYH3-related disorder
Meniere disease
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
Freeman-Sheldon syndrome
Arthrogryposis, distal, type 2B3
Contractures, pterygia, and variable skeletal fusions syndrome 1B

Criteria Provided
Conflicting Classifications

CA209607

rs_139480342

7 SubmittersRCV000195045 RCV000662290 RCV001127113 RCV001522905 RCV004541247 RCV004567395 RCV005396572

NM_001148.6(ANK2):c.8144C>T (p.Ser2715Phe)

SNV
Germline

Chr4:113356762

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiac arrhythmia, ankyrin-B-related
Cardiovascular phenotype
Meniere disease

Criteria Provided
Conflicting Classifications

CA336737

rs_147619875

6 SubmittersRCV000196821 RCV000486245 RCV001145633 RCV002415855 RCV004567438

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_001148.6(ANK2):c.10805G>A (p.Arg3602Gln)

SNV
Germline

Chr4:113363386

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome
Cardiac arrhythmia, ankyrin-B-related
Condition: not provided
Meniere disease

Criteria Provided
Conflicting Classifications

CA3052138

rs_374991526

5 SubmittersRCV000243213 RCV000631583 RCV002487152 RCV003326393 RCV004567805

NM_002334.4(LRP4):c.5660C>G (p.Ser1887Cys)

SNV
Germline

Chr11:46859041

Conflicting classifications of pathogenicity

Condition: not provided
Cenani-Lenz syndactyly syndrome
Sclerosteosis 2
Congenital myasthenic syndrome 17
Cenani-Lenz syndactyly syndrome
LRP4-related disorder
Meniere disease

Criteria Provided
Conflicting Classifications

CA5968969

rs_149082597

9 SubmittersRCV000360139 RCV000524562 RCV001107019 RCV004535290 RCV004567827

NM_001365951.3(KIF1B):c.146C>A (p.Ser49Tyr)

SNV
Germline

Chr1:10256286

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease
Condition: not provided
not specified
Meniere disease
Neuroblastoma
Pheochromocytoma

Criteria Provided
Conflicting Classifications

CA580622

rs_143654307

8 SubmittersRCV000383160 RCV001173603 RCV003480578 RCV004021327 RCV004567840 RCV000347279 RCV005055103

NM_001854.4(COL11A1):c.4594C>G (p.Pro1532Ala)

SNV
Germline

Chr1:102888591

Conflicting classifications of pathogenicity

Stickler syndrome type 2
Fibrochondrogenesis 1
Condition: not provided
Meniere disease

Criteria Provided
Conflicting Classifications

CA973471

rs_140954784

4 SubmittersRCV000279813 RCV000338595 RCV001660559 RCV004567841

NM_001854.4(COL11A1):c.328G>C (p.Gly110Arg)

SNV
Germline

Chr1:103078818

Conflicting classifications of pathogenicity

Stickler syndrome type 2
Condition: not provided
COL11A1-related disorder
not specified
Meniere disease
Fibrochondrogenesis 1
Connective tissue disorder

Criteria Provided
Conflicting Classifications

CA975481

rs_141978499

11 SubmittersRCV000351685 RCV000513856 RCV004537629 RCV005431600 RCV004567844 RCV000404285 RCV000680462

NM_001854.4(COL11A1):c.1427G>A (p.Arg476His)

SNV
Germline

Chr1:103015729

Conflicting classifications of pathogenicity

Fibrochondrogenesis 1
Stickler syndrome type 2
Condition: not provided
COL11A1-related disorder
Meniere disease

Criteria Provided
Conflicting Classifications

CA974978

rs_149558726

6 SubmittersRCV000275597 RCV000330638 RCV000494431 RCV004737428 RCV004567842

NM_001854.4(COL11A1):c.698A>G (p.Tyr233Cys)

SNV
Germline

Chr1:103031198

Conflicting classifications of pathogenicity

Stickler syndrome type 2
Fibrochondrogenesis 1
Connective tissue disorder
not specified
Meniere disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA975345

rs_141304474

6 SubmittersRCV000287951 RCV000403940 RCV002278329 RCV004525918 RCV004567843 RCV001660560

NM_000081.4(LYST):c.4705A>C (p.Asn1569His)

SNV
Germline

Chr1:235787357

Conflicting classifications of pathogenicity

Chédiak-Higashi syndrome
Condition: not provided
Autoinflammatory syndrome
LYST-related disorder
Inborn genetic diseases
Meniere disease

Criteria Provided
Conflicting Classifications

CA1466767

rs_767687843

10 SubmittersRCV000309417 RCV000788549 RCV002262932 RCV003940114 RCV004021440 RCV004567847

NM_001852.4(COL9A2):c.1834G>A (p.Gly612Arg)

SNV
Germline

Chr1:40301848

Conflicting classifications of pathogenicity

Epiphyseal dysplasia, multiple, 2
Condition: not provided
COL9A2-related disorder
Meniere disease
not specified

Criteria Provided
Conflicting Classifications

CA791313

rs_142151614

7 SubmittersRCV000335526 RCV000657851 RCV003422216 RCV004567848 RCV004586671

NM_000092.5(COL4A4):c.4678C>T (p.Arg1560Cys)

SNV
Germline

Chr2:227008149

Conflicting classifications of pathogenicity

Alport syndrome
Autosomal dominant Alport syndrome
Inborn genetic diseases
Autosomal recessive Alport syndrome
Condition: not provided
Meniere disease

Criteria Provided
Conflicting Classifications

CA2144098

rs_200973262

10 SubmittersRCV000342956 RCV001029898 RCV001265753 RCV001330986 RCV001770271 RCV004567864

NM_000260.4(MYO7A):c.2057G>A (p.Arg686His)

SNV
Germline

Chr11:77174877

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6197677

rs_781991817

7 SubmittersRCV000295997 RCV000344917 RCV000380863 RCV001048255 RCV001526683 RCV001833447 RCV005396937 RCV004725160

NM_000260.4(MYO7A):c.2507G>A (p.Arg836His)

SNV
Germline

Chr11:77179874

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6197856

rs_782179888

7 SubmittersRCV000276334 RCV000333807 RCV000363893 RCV001207535 RCV001526684 RCV001833449 RCV004734969

NM_018451.5(CPAP):c.2785A>G (p.Lys929Glu)

SNV
Germline

Chr13:24903966

Conflicting classifications of pathogenicity

Seckel syndrome 4
Microcephaly 6, primary, autosomal recessive
Condition: not provided
Meniere disease

Criteria Provided
Conflicting Classifications

CA6919518

rs_141844033

3 SubmittersRCV000334398 RCV000394810 RCV002056367 RCV004567854

NM_002470.4(MYH3):c.248C>G (p.Pro83Arg)

SNV
Germline

Chr17:10652520

Conflicting classifications of pathogenicity

Distal arthrogryposis type 2B1
Freeman-Sheldon syndrome
MYH3-related disorder
Condition: not provided
Meniere disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8393364

rs_199513213

5 SubmittersRCV000303165 RCV000408004 RCV000791001 RCV002522912 RCV004567862 RCV006362271

NM_006005.3(WFS1):c.2053C>T (p.Arg685Cys)

SNV
Germline

Chr4:6301848

Conflicting classifications of pathogenicity

Monogenic diabetes
Condition: not provided
Wolfram syndrome 1
Autosomal dominant nonsyndromic hearing loss 6
WFS1-related disorder
Wolfram-like syndrome
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Cataract 41
Wolfram syndrome 1
Meniere disease
Optic atrophy

Criteria Provided
Conflicting Classifications

CA2839583

rs_112967046

10 SubmittersRCV000445499 RCV001351930 RCV002250628 RCV004668975 RCV004529580 RCV005033963 RCV004567928 RCV004816668

NM_001852.4(COL9A2):c.2059A>G (p.Lys687Glu)

SNV
Germline

Chr1:40301193

Conflicting classifications of pathogenicity

Epiphyseal dysplasia, multiple, 2
Stickler syndrome, type 5
Intervertebral disc disorder
Epiphyseal dysplasia, multiple, 2
Condition: not provided
Meniere disease
COL9A2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA791246

rs_201847956

7 SubmittersRCV000477829 RCV001100678 RCV001489852 RCV004568139 RCV004740252 RCV005239060

NM_206996.4(SPAG17):c.1069G>C (p.Asp357His)

SNV
Germline

Chr1:118093260

Likely pathogenic

Cranioectodermal dysplasia 2
Meniere disease

Criteria Provided
Single Submitter

CA1034400

rs_183758503

2 SubmittersRCV000504571 RCV004568643

NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro)

SNV
Germline

Chr11:77172799

Likely pathogenic

Usher syndrome
Autosomal recessive nonsyndromic hearing loss 2
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Hearing loss, autosomal recessive
Nonsyndromic genetic hearing loss
Condition: not provided
Meniere disease
Usher syndrome type 1

Reviewed By Expert Panel

CA6197628

rs_782063761

8 SubmittersRCV000504967 RCV000681537 RCV000670176 RCV001291471 RCV004595510 RCV003558426 RCV006254081 RCV005623076

NM_000260.4(MYO7A):c.3G>A (p.Met1Ile)

SNV
Germline

Chr11:77130637

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6196971

rs_782787126

5 SubmittersRCV000668632 RCV001203639 RCV001526681 RCV001829848 RCV005004336

NM_000260.4(MYO7A):c.617G>A (p.Arg206His)

SNV
Germline

Chr11:77156886

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6197204

rs_781998354

6 SubmittersRCV000825983 RCV001109567 RCV001113579 RCV001245266 RCV001275895 RCV006254166

NM_000092.5(COL4A4):c.4522G>A (p.Gly1508Ser)

SNV
Germline

Chr2:227010313

Likely pathogenic

Autosomal dominant Alport syndrome
Condition: not provided
Meniere disease
Hematuria

Criteria Provided
Multiple Submitters
No Conflicts

CA66541319

rs_1003748020

4 SubmittersRCV001029868 RCV001862424 RCV004570083 RCV006454713

NM_000092.5(COL4A4):c.1055C>T (p.Pro352Leu)

SNV
Germline

Chr2:227099664

Conflicting classifications of pathogenicity

Condition: not provided
Alport syndrome
Inborn genetic diseases
Meniere disease
COL4A4-related disorder
not specified
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1
Autosomal recessive Alport syndrome

Criteria Provided
Conflicting Classifications

CA2145299

rs_371717486

9 SubmittersRCV001040564 RCV001274060 RCV002551476 RCV004570128 RCV004738127 RCV004800666 RCV005021355 RCV005051847

NM_002470.4(MYH3):c.347A>G (p.Tyr116Cys)

SNV
Germline

Chr17:10652421

Conflicting classifications of pathogenicity

Freeman-Sheldon syndrome
Distal arthrogryposis type 2B1
Condition: not provided
Meniere disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8393340

rs_147024680