ClinVar Miner

Variants studied for Usher syndrome

Included ClinVar conditions (31):
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 not provided total
332 495 1284 240 76 1 3 2316

Gene and significance breakdown #

Total genes and gene combinations: 31
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
USH2A 134 198 295 42 22 0 0 651
MYO7A 64 110 200 68 11 0 1 426
PCDH15 16 87 268 21 5 0 0 388
CDH23 18 7 150 31 5 0 2 204
USH1C 16 34 101 23 3 0 0 169
ADGRV1 34 23 35 0 7 0 0 96
WHRN 4 0 55 14 6 0 0 76
CLRN1 14 15 34 11 4 0 0 75
HARS1 1 1 58 5 2 0 0 65
USH1G 8 1 25 11 3 0 0 47
LOC102723833, USH2A 9 15 12 3 2 0 0 37
C10orf105, CDH23 4 0 20 2 3 0 0 26
CDH23, PSAP 0 0 16 8 1 0 0 24
HARS1, HARS2 0 0 5 0 0 0 0 5
LOC105378311, PCDH15 0 3 1 1 0 0 0 5
HARS1, WDR55 0 0 3 0 0 0 0 3
OTOP2, USH1G 1 1 1 0 0 0 0 3
PDZD7 1 0 1 0 0 1 0 3
CDH23, LOC111982869 0 0 2 0 0 0 0 2
CDH23, VSIR 0 0 0 0 2 0 0 2
PROM1 1 0 1 0 0 0 0 2
ARSG 1 0 0 0 0 0 0 1
BBS1, ZDHHC24 1 0 0 0 0 0 0 1
BPNT1, C1orf115, DUSP10, EPRS1, ESRRG, GPATCH2, HHIPL2, HLX, IARS2, LINC00210, LINC01352, LINC01653, LINC01655, LINC01710, LINC02257, LINC02474, LINC02779, LINC02817, LINC02869, LOC102723833, LOC107325941, LOC110121042, LOC111429604, 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 0 0 1
CEP250 1 0 0 0 0 0 0 1
CIB2 1 0 0 0 0 0 0 1
ESPN 1 0 0 0 0 0 0 1
GUCA1A 1 0 0 0 0 0 0 1
KCTD3, USH2A 0 0 1 0 0 0 0 1
LOC105378311, MIR548F1, PCDH15 0 1 0 0 0 0 0 1
MT-TS2 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 54
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Counsyl 93 366 601 73 2 0 0 1135
Illumina Clinical Services Laboratory,Illumina 1 1 551 158 17 0 0 727
Fulgent Genetics,Fulgent Genetics 29 4 64 0 0 0 0 97
Mendelics 20 11 7 1 47 0 0 86
OMIM 76 0 3 0 0 1 0 80
Sharon lab,Hadassah-Hebrew University Medical Center 43 10 0 0 0 0 0 53
NIHR Bioresource Rare Diseases, University of Cambridge 8 35 8 1 0 0 0 52
Invitae 0 0 43 3 0 0 0 46
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 29 8 0 0 0 0 0 37
ClinGen Hearing Loss Variant Curation Expert Panel, 8 7 11 6 5 0 0 37
GeneReviews 22 9 0 0 1 0 0 32
Baylor Genetics 20 10 0 0 0 0 0 30
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 9 5 6 0 0 0 0 20
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 14 5 0 0 0 0 0 19
Human Genetics - Radboudumc,Radboudumc 8 2 5 0 0 0 0 15
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 6 4 0 0 0 0 11
Division of Human Genetics,Children's Hospital of Philadelphia 1 1 8 0 0 0 0 10
Integrated Genetics/Laboratory Corporation of America 8 1 0 0 0 0 0 9
Molecular Diagnostics Laboratory, M Health: University of Minnesota 6 3 0 0 0 0 0 9
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 7 2 0 0 0 0 0 9
Department of Ophthalmology and Visual Sciences Kyoto University 2 6 0 0 0 0 0 8
Molecular Genetics Laboratory; Baylor College of Medicine 0 1 6 0 0 0 0 7
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 5 1 0 0 0 0 0 6
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 6 0 0 0 0 6
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 3 2 0 0 0 0 6
GeneID Lab - Advanced Molecular Diagnostics 0 6 0 0 0 0 0 6
SIB Swiss Institute of Bioinformatics 0 1 0 0 4 0 0 5
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 2 1 1 0 0 0 0 4
Center of Genomic medicine, Geneva,University Hospital of Geneva 4 0 0 0 0 0 0 4
Centre de Biotechnologie de Sfax,Université de Sfax 3 0 0 0 0 0 0 3
Hereditary Research Laboratory,Bethlehem University 3 0 0 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 0 3 3
Broad Institute Rare Disease Group,Broad Institute 2 0 1 0 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 1 0 0 2
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 2 0 0 0 0 0 2
Laboratory of Prof. Karen Avraham,Tel Aviv University 2 0 0 0 0 0 0 2
Rui Chen Lab,Baylor College of Medicine 2 0 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 0 2
Biochemistry Laboratory of CDMU,Chengde Medical University 0 2 0 0 0 0 0 2
The Cell Therapy Center,The University of Jordan 2 0 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 0 1
FirmaLab 1 0 0 0 0 0 0 1
Sema4, Sema4 0 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 1
Institute for Ophthalmic Research,University Tuebingen 1 0 0 0 0 0 0 1
Laboratory of NeuroGenetics and Regenerative Medicine,University of Maryland School of Medicine 1 0 0 0 0 0 0 1
Kasturba Medical College,Manipal University 1 0 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 1 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 0 1 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 1 0 0 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 0 0 1
Medical Genetics and Immunology,Urmia University of Medical sciences 1 0 0 0 0 0 0 1

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