ClinVar Miner

Variants studied for Usher syndrome, type 2A

Coded as:
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
102 48 15 1 1 1 159

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
USH2A 93 45 14 1 1 0 145
LOC102723833, USH2A 8 3 1 0 0 0 12
PDZD7 1 0 0 0 0 1 2

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 79 22 0 0 0 0 101
OMIM 13 0 0 0 0 1 14
Counsyl 5 7 0 0 0 0 12
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 7 2 0 0 0 0 9
Human Genetics - Radboudumc,Radboudumc 4 2 1 0 0 0 7
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 4 1 1 0 0 0 6
Department of Ophthalmology and Visual Sciences Kyoto University 2 3 0 0 0 0 5
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 5 0 0 0 5
Molecular Genetics Laboratory; Baylor College of Medicine 0 1 3 0 0 0 4
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 1 3 0 0 0 0 4
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 2 0 0 0 3
GeneID Lab - Advanced Molecular Diagnostics 0 3 0 0 0 0 3
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
SIB Swiss Institute of Bioinformatics 0 1 0 0 1 0 2
Broad Institute Rare Disease Group,Broad Institute 2 0 0 0 0 0 2
ClinGen Hearing Loss Variant Curation Expert Panel, 0 1 0 1 0 0 2
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 2 0 0 0 0 0 2
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
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 1 0 0 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 1 0 0 0 0 1

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