ClinVar Miner

Variants studied for Usher syndrome type 2A

Included ClinVar conditions (4):
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
151 205 243 32 1 1 598

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
USH2A 139 191 231 29 1 0 558
LOC102723833, USH2A 10 14 10 3 0 0 35
PDZD7 1 0 1 0 0 1 3
CDH23 1 0 0 0 0 0 1
KCTD3, USH2A 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Counsyl 71 171 224 31 0 0 497
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 79 22 0 0 0 0 101
Fulgent Genetics 10 1 14 0 0 0 25
OMIM 13 0 0 0 0 1 14
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
Molecular Diagnostics Laboratory,M Health: University of Minnesota 1 1 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
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 1 0 0 0 1

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