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
172 207 283 32 27 1 691

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 126 179 232 29 18 0 557
ADGRV1 33 15 35 0 7 0 88
LOC102723833, USH2A 7 13 10 3 2 0 33
WHRN 4 0 4 0 0 0 8
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: 34
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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 18 10 5 1 26 0 60
Fulgent Genetics,Fulgent Genetics 13 1 37 0 0 0 51
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
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 6 2 5 0 0 0 13
Baylor Genetics 10 2 0 0 0 0 12
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
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 6 0 0 0 6
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
Molecular Diagnostics Laboratory, M Health: University of Minnesota 1 3 0 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
Broad Institute Rare Disease Group,Broad Institute 2 0 1 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
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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 1 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
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

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