ClinVar Miner

Variants studied for Usher syndrome

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
41 67 44 10 6 160

Gene and significance breakdown #

Total genes and gene combinations: 20
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
USH2A 24 32 23 8 5 87
MYO7A 7 19 8 1 0 33
ADGRV1 3 7 1 0 0 10
CDH23 0 2 5 1 0 8
USH1C 1 3 0 0 0 4
PCDH15 0 3 0 0 0 3
C10orf105, CDH23 0 0 1 0 1 2
PROM1 1 0 1 0 0 2
ARSG 1 0 0 0 0 1
ATP6V1B1 0 0 1 0 0 1
BBS1, ZDHHC24 1 0 0 0 0 1
BPNT1, C1orf115, DUSP10, EPRS1, ESRRG, GPATCH2, HHIPL2, HLX, IARS2, LINC00210, LINC01352, LINC01653, LINC01655, LINC01710, LINC02257, LINC02474, LINC02779, LINC02817, LINC02869, LOC107325941, LOC110121042, LOC111429604, LOC120908907, LOC120908908, LOC120908909, LOC120908910, LYPLAL1, LYPLAL1-DT, MARK1, MIR194-1, MIR215, MIR664A, MTARC1, MTARC2, RAB3GAP2, RRP15, SLC30A10, SNORA36B, SPATA17, TAF1A, TGFB2, TGFB2-OT1, TRT-TGT2-1, USH2A, ZC3H11B 0 1 0 0 0 1
CEP250 1 0 0 0 0 1
CLRN1 1 0 0 0 0 1
COCH, LOC100506071 0 0 1 0 0 1
CRX 0 0 1 0 0 1
GUCA1A, LOC118142757 1 0 0 0 0 1
HARS1 0 0 1 0 0 1
LOC105378311, MIR548F1, PCDH15 0 1 0 0 0 1
SERPINB6 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
ClinGen Hearing Loss Variant Curation Expert Panel 10 19 28 9 6 72
NIHR Bioresource Rare Diseases, University of Cambridge 8 36 8 1 0 53
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 12 10 0 0 0 22
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 8 6 0 0 0 14
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 5 1 0 0 0 6
Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Center 1 0 4 0 0 5
Human Genetics - Radboudumc,Radboudumc 1 0 1 0 0 2
Sharon lab,Hadassah-Hebrew University Medical Center 2 0 0 0 0 2
Clinical Genetics laboratory, University of Goettingen 0 0 1 0 0 1
Molecular Genetics Laboratory,Institute for Ophthalmic Research 1 0 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 0 0 1 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 1

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