ClinVar Miner

Variants studied for Hearing loss

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Gene type:
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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 not provided total
31 4 5 1 0 4 3 48

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign association not provided total
GJB2 30 2 4 1 0 0 37
SLC12A2 0 0 0 0 4 0 4
MYO7A 1 1 0 0 0 0 2
CLDN9 0 1 0 0 0 0 1
MAP3K1 0 0 1 0 0 0 1
MSRB3 0 0 0 0 0 1 1
OTOG 0 0 0 0 0 1 1
SLC26A4 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 6
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Submitter pathogenic likely pathogenic uncertain significance likely benign association not provided total
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 30 2 4 1 0 0 37
National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center 0 0 0 0 4 0 4
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 1 0 0 0 0 2
National Institute on Deafness and Communication Disorders, National Institutes of Health 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1

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