ClinVar Miner

Variants studied for Usher syndrome, type 2C

Coded as:
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 not provided total
27 16 334 36 69 1 474

Gene and significance breakdown #

Total genes and gene combinations: 6
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ADGRV1 27 16 333 34 67 1 469
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
PDZD7 0 0 1 0 0 0 1
WDR36 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 23
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 1 312 34 62 0 409
Mendelics 4 1 2 0 7 0 14
Ocular Genomics Institute, Massachusetts Eye and Ear 1 2 7 0 0 0 10
Baylor Genetics 0 0 9 0 0 0 9
OMIM 8 0 0 0 0 0 8
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 3 3 0 0 0 0 6
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 1 3 0 0 0 6
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 4 2 0 0 0 0 6
Broad Institute Rare Disease Group, Broad Institute 0 0 0 2 2 0 4
Department of Ophthalmology and Visual Sciences Kyoto University 0 3 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Hereditary Research Laboratory, Bethlehem University 2 0 0 0 0 0 2
INGEBI, INGEBI / CONICET 2 0 0 0 0 0 2
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Human Genetics - Radboudumc,Radboudumc 0 0 1 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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 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.