ClinVar Miner

Variants studied for Usher syndrome type 3A

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 total
7 18 23 8 6 61

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CLRN1 6 18 23 8 6 60
USH2A 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Counsyl 2 9 11 5 1 28
Natera, Inc. 3 1 10 3 2 19
Pars Genome Lab 0 0 0 0 5 5
Institute of Rare Diseases, West China Hospital, Sichuan University 2 3 0 0 0 5
Ocular Genomics Institute, Massachusetts Eye and Ear 2 0 0 0 0 2
Genome-Nilou Lab 0 0 2 0 0 2
Illumina Laboratory Services, Illumina 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 1
Myriad Genetics, Inc. 0 0 1 0 0 1
3billion 1 0 0 0 0 1
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 1
Department of Medical Genetics, School of Advanced Technologies in Medicine, Golestan University of Medical Sciences 0 1 0 0 0 1

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