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
124 188 244 32 20 1 586

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 116 175 232 29 18 0 549
LOC102723833, USH2A 6 13 10 3 2 0 32
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 62 161 223 31 0 0 477
Mendelics 14 9 3 1 19 0 46
Fulgent Genetics,Fulgent Genetics 10 1 14 0 0 0 25
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 17 3 0 0 0 0 20
OMIM 13 0 0 0 0 1 14
Baylor Genetics 10 2 0 0 0 0 12
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
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
Broad Institute Rare Disease Group,Broad Institute 2 0 1 0 0 0 3
Molecular Diagnostics Laboratory, M Health: University of Minnesota 1 2 0 0 0 0 3
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 2 0 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
SIB Swiss Institute of Bioinformatics 0 1 0 0 1 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
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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 1

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