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
154 198 506 93 92 1 983

Gene and significance breakdown #

Total genes and gene combinations: 5
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
USH2A 148 198 504 93 92 0 974
ADGRV1 4 0 0 0 0 0 4
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: 41
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Counsyl 60 160 223 31 0 0 474
Natera, Inc. 37 6 199 51 72 0 365
Illumina Clinical Services Laboratory,Illumina 0 0 101 10 23 0 134
Mendelics 14 9 3 1 19 0 46
Fulgent Genetics,Fulgent Genetics 10 1 14 0 0 0 25
Centre for Mendelian Genomics,University Medical Centre Ljubljana 8 5 11 1 0 0 25
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 17 3 0 0 0 0 20
Baylor Genetics 11 3 2 0 0 0 16
OMIM 13 0 0 0 0 1 14
National Institute on Deafness and Communication Disorders,National Institutes of Health 10 0 2 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
Myriad Women's Health, Inc. 2 3 0 0 0 0 5
Molecular Genetics Laboratory; Baylor College of Medicine 0 1 3 0 0 0 4
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 2 1 1 0 0 0 4
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 3 0 0 0 0 0 3
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 Fairview: University of Minnesota 1 2 0 0 0 0 3
Pars Genome Lab 0 0 1 2 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 0 0 0 0 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 1 0 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 0 0 0 0 0 2
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 0 2 0 0 0 2
Rui Chen Lab,Baylor College of Medicine 2 0 0 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
Nilou-Genome Lab 0 0 0 2 0 0 2
FirmaLab,FirmaLab 1 0 0 0 0 0 1
Sema4,Sema4 0 1 0 0 0 0 1
Mayo Clinic 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
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
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.