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
231 217 936 132 182 1 1628

Gene and significance breakdown #

Total genes and gene combinations: 13
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
USH2A 178 201 501 89 92 0 999
ADGRV1 39 16 333 34 67 0 480
WHRN 4 0 100 7 21 0 132
MYO7A 3 0 0 0 0 0 3
PDZD7 1 0 1 0 0 1 3
USH1C 3 0 0 0 0 0 3
CDH23 2 0 0 0 0 0 2
CDH23, LOC111982869 1 0 0 0 0 0 1
CNKSR1 0 0 0 0 1 0 1
CRYGC, LOC100507443 0 0 0 0 1 0 1
FRAS1 0 0 0 1 0 0 1
KCTD3, USH2A 0 0 1 0 0 0 1
WDR36 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 43
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Illumina Clinical Services Laboratory,Illumina 0 1 511 51 106 0 669
Counsyl 60 160 223 31 0 0 474
Natera, Inc. 37 6 199 51 72 0 365
Mendelics 18 10 5 1 26 0 60
Fulgent Genetics,Fulgent Genetics 13 1 37 0 0 0 51
Molecular Genetics Laboratory,Institute for Ophthalmic Research 32 0 0 0 0 0 32
Sharon lab,Hadassah-Hebrew University Medical Center 21 6 0 0 0 0 27
OMIM 25 0 0 0 0 1 26
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 20 6 0 0 0 0 26
Centre for Mendelian Genomics,University Medical Centre Ljubljana 8 5 11 1 0 0 25
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 6 2 5 0 0 0 13
Baylor Genetics 10 2 0 0 0 0 12
National Institute on Deafness and Communication Disorders,National Institutes of Health 10 0 0 0 0 0 10
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
Broad Institute Rare Disease Group,Broad Institute 2 0 1 2 2 0 7
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 6 0 0 0 6
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 of Genomic medicine, Geneva,University Hospital of Geneva 4 0 0 0 0 0 4
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 2 1 1 0 0 0 4
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 3 0 0 0 0 4
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 3 0 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 0 3
GeneID Lab - Advanced Molecular Diagnostics 0 3 0 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 0 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 2 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
Hereditary Research Laboratory,Bethlehem University 2 0 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 1 0 0 1 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 1 0 0 0 2
FirmaLab 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 1 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 1

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