ClinVar Miner

Variants studied for autosomal recessive nonsyndromic deafness 3

Included ClinVar conditions (1):
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
77 30 285 16 36 1 422

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 not provided total
MYO15A 77 30 281 16 36 1 418
LOC105371566, MYO15A 0 0 4 0 0 0 4

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 1 3 259 11 24 0 298
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 1 7 2 16 0 26
National Institute on Deafness and Communication Disorders,National Institutes of Health 10 2 5 0 0 0 17
Laboratory of Prof. Karen Avraham,Tel Aviv University 16 1 0 0 0 0 17
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 5 6 2 0 0 0 13
OMIM 12 0 0 0 0 0 12
Baylor Genetics 0 0 11 0 0 0 11
Division of Human Genetics,Children's Hospital of Philadelphia 4 1 5 0 0 1 11
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 2 8 0 0 0 0 10
Center for Statistical Genetics, Columbia University 9 0 0 0 0 0 9
Mendelics 2 0 2 2 0 0 6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 5 0 5
Hereditary Research Laboratory, Bethlehem University 4 0 0 0 0 0 4
Fulgent Genetics,Fulgent Genetics 2 0 1 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 0 1 0 0 0 3
Laboratory of Molecular Genetics,Brain Korea 21 PLUS Project for Medical Sciences, Yonsei University College of Medicine 3 0 0 0 0 0 3
Molecular Diagnosis Center for Deafness 3 0 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 1 0 0 0 2
Hereditary Hearing Loss Research Unit,University of Madras 1 1 0 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 1 0 0 0 2
Department of Genetics,Sultan Qaboos University Hospital, Oman 2 0 0 0 0 0 2
Neurogenetic Laboratory,Second Faculty of Medicine, Charles University 0 1 1 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Laboratory of Molecular Genetics,National Institutes of Health 0 1 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 1 0 0 1
Santos-Cortez Lab,University of Colorado School of Medicine 0 1 0 0 0 0 1
The Genetic Institute, Ha'emek Medical center,Ha'emek Medical Center 1 0 0 0 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 1 0 0 0 0 0 1

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