ClinVar Miner

Variants studied for autosomal recessive nonsyndromic deafness 9

Included ClinVar conditions (2):
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 association total
92 10 177 30 29 7 322

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association total
OTOF 90 10 177 30 29 7 320
IGSF6, METTL9, OTOA 1 0 0 0 0 0 1
RAI1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association total
Illumina Clinical Services Laboratory,Illumina 1 1 167 28 15 0 212
GeneReviews 65 0 0 0 23 7 95
OMIM 14 0 0 0 0 0 14
Division of Hearing and Balance Research,National Hospital Organization Tokyo Medical Center 7 0 0 0 0 0 7
Baylor Genetics 1 0 5 0 0 0 6
National Institute on Deafness and Communication Disorders,National Institutes of Health 3 0 2 0 0 0 5
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 3 1 1 0 0 0 5
Mendelics 1 0 0 2 1 0 4
Fulgent Genetics,Fulgent Genetics 0 1 2 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 0 3
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 3 0 0 0 3
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 2 1 0 0 0 0 3
Molecular Genetics Laboratory; Baylor College of Medicine 0 2 0 0 0 0 2
Hereditary Research Laboratory, Bethlehem University 2 0 0 0 0 0 2
Clinical Genetics laboratory, University of Goettingen 0 1 0 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Laboratory of Prof. Karen Avraham,Tel Aviv University 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 1 0 0 0 0 0 1
University of Arizona Genetics Core,University of Arizona 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 0 0 1 0 1
Indian Institute of Integrative Medicine,Council of Scientific and Industrial Research 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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