ClinVar Miner

Variants studied for Usher syndrome type 2

Included ClinVar conditions (9):
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
197 218 278 33 3 1 692

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
USH2A 139 191 231 30 3 0 560
ADGRV1 40 13 32 0 0 0 83
LOC102723833, USH2A 10 14 10 3 0 0 35
WHRN 6 0 3 0 0 0 9
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: 32
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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 104 25 0 0 0 0 129
Fulgent Genetics 13 1 37 0 0 0 51
OMIM 25 0 0 0 0 1 26
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 6 1 4 0 0 0 11
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 7 2 0 0 0 0 9
Department of Ophthalmology and Visual Sciences Kyoto University 2 6 0 0 0 0 8
Human Genetics - Radboudumc,Radboudumc 4 2 2 0 0 0 8
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 6 2 0 0 0 0 8
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 6 0 0 0 7
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 1 5 0 0 0 0 6
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 6 0 0 0 6
ClinGen Hearing Loss Variant Curation Expert Panel, 0 1 0 2 2 0 5
Molecular Genetics Laboratory; Baylor College of Medicine 0 1 3 0 0 0 4
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 3 0 0 0 3
Illumina Clinical Services Laboratory,Illumina 0 1 2 0 0 0 3
GeneID Lab - Advanced Molecular Diagnostics 0 3 0 0 0 0 3
Molecular Diagnostics Laboratory,M Health: University of Minnesota 1 2 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
Hereditary Research Laboratory,Bethlehem University 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
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
UCLA Clinical Genomics Center, UCLA 0 1 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

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