ClinVar Miner

Variants studied for Usher syndrome

Included ClinVar conditions (30):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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 risk factor total
403 539 1259 241 36 1 2362

Gene and significance breakdown #

Total genes and gene combinations: 29
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
USH2A 145 206 294 41 7 0 648
MYO7A 93 146 199 68 11 0 477
PCDH15 19 85 268 21 1 0 386
CDH23 33 11 148 30 0 0 219
USH1C 14 32 99 23 2 0 165
ADGRV1 41 21 32 0 0 0 91
WHRN 6 0 54 14 0 0 74
CLRN1 13 14 34 11 4 0 71
HARS1 1 1 45 8 8 0 61
USH1G 6 1 24 11 2 0 44
LOC102723833, USH2A 12 15 11 3 0 0 37
C10orf105, CDH23 8 0 20 2 1 0 29
CDH23, PSAP 0 0 16 8 0 0 24
CDH23, LOC111982869 2 1 2 0 0 0 5
HARS1, HARS2 0 0 5 0 0 0 5
LOC105378311, PCDH15 0 3 1 1 0 0 5
HARS1, WDR55 0 0 3 0 0 0 3
OTOP2, USH1G 1 1 1 0 0 0 3
PDZD7 1 0 1 0 0 1 3
LOC105378311, MIR548F1, PCDH15 1 1 0 0 0 0 2
PROM1 1 0 1 0 0 0 2
ARSG 1 0 0 0 0 0 1
BBS1, ZDHHC24 1 0 0 0 0 0 1
BPNT1, C1orf115, C1orf140, C1orf143, DUSP10, EPRS, ESRRG, GPATCH2, HHIPL2, HLX, IARS2, LINC00210, LINC01352, LINC01653, LINC01655, LINC01710, LINC02257, LINC02474, LINC02779, LOC102723833, LOC107325941, LOC110121042, LOC111429604, LYPLAL1, LYPLAL1-DT, MARC1, MARC2, MARK1, MIR194-1, MIR215, MIR664A, RAB3GAP2, RRP15, SLC30A10, SNORA36B, SPATA17, TAF1A, TGFB2, TGFB2-OT1, TRT-TGT2-1, USH2A, ZC3H11B 0 1 0 0 0 0 1
CIB2 1 0 0 0 0 0 1
ESPN 1 0 0 0 0 0 1
GUCA1A 1 0 0 0 0 0 1
KCTD3, USH2A 0 0 1 0 0 0 1
MT-TS2 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 46
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Counsyl 108 382 600 73 2 0 1165
Illumina Clinical Services Laboratory,Illumina 1 1 551 158 17 0 727
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 220 83 0 0 0 0 303
Fulgent Genetics 29 4 64 0 0 0 97
OMIM 76 0 3 0 0 1 80
NIHR Bioresource Rare Diseases,University of Cambridge 8 37 8 1 0 0 54
Invitae 0 0 30 6 7 0 43
GeneReviews 22 9 0 0 1 0 32
ClinGen Hearing Loss Variant Curation Expert Panel, 7 3 7 5 5 0 27
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 9 3 5 0 0 0 17
Human Genetics - Radboudumc,Radboudumc 8 2 5 0 0 0 15
Integrated Genetics/Laboratory Corporation of America 9 1 0 0 0 0 10
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 8 2 0 0 0 0 10
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 6 3 0 0 0 10
Division of Human Genetics,Children's Hospital of Philadelphia 1 1 8 0 0 0 10
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 3 7 0 0 0 0 10
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 7 2 0 0 0 0 9
Department of Ophthalmology and Visual Sciences Kyoto University 2 6 0 0 0 0 8
Molecular Diagnostics Laboratory,M Health: University of Minnesota 6 2 0 0 0 0 8
Molecular Genetics Laboratory; Baylor College of Medicine 0 1 6 0 0 0 7
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 5 1 0 0 0 0 6
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 6 0 0 0 6
GeneID Lab - Advanced Molecular Diagnostics 0 6 0 0 0 0 6
SIB Swiss Institute of Bioinformatics 0 1 0 0 4 0 5
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 2 1 1 0 0 0 4
Centre de Biotechnologie de Sfax,Université de Sfax 3 0 0 0 0 0 3
Hereditary Research Laboratory,Bethlehem University 3 0 0 0 0 0 3
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 2 0 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 0 0 0 0 0 2
Rui Chen Lab,Baylor College of Medicine 2 0 0 0 0 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 0 1 0 0 0 2
Broad Institute Rare Disease Group,Broad Institute 2 0 0 0 0 0 2
Biochemistry Laboratory of CDMU,Chengde Medical University 0 2 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
FirmaLab 1 0 0 0 0 0 1
Mendelics 0 1 0 0 0 0 1
Sema4,Sema4 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Institute for Ophthalmic Research,University Tuebingen 1 0 0 0 0 0 1
Laboratory of NeuroGenetics and Regenerative Medicine,University of Maryland School of Medicine 1 0 0 0 0 0 1
Kasturba Medical College,Manipal University 1 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 1 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 0 1 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 1 0 0 0 0 1
The Cell Therapy Center,The University of Jordan 1 0 0 0 0 0 1

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