ClinVar Miner

Variants studied for Nonsyndromic hearing loss and deafness

Coded as:
Minimum submission review status: Collection method:
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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
15 7 10 9 9 1 51

Gene and significance breakdown #

Total genes and gene combinations: 13
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GJB2 7 2 7 0 0 0 16
TECTA 0 0 0 7 2 0 9
COCH, LOC100506071 1 0 1 0 3 0 5
MYO7A 0 1 2 0 2 0 5
MYO6 0 1 0 1 2 0 4
KCNQ4 1 1 0 1 0 0 3
CEACAM16 1 1 0 0 0 0 2
USH2A 2 0 0 0 0 0 2
KARS1 1 0 0 0 0 0 1
MYO3A 1 0 0 0 0 0 1
OTOF 0 1 0 0 0 0 1
SLC26A5 0 0 0 0 0 1 1
TRIOBP 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 7
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ClinGen Hearing Loss Variant Curation Expert Panel, 9 5 10 9 9 0 42
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 1 0 0 0 1 3
Laboratory of Prof. Karen Avraham,Tel Aviv University 3 0 0 0 0 0 3
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 1 0 0 0 0 1
Human Genetics Laboratory,Institute of Biosciences - University of Sao Paulo 1 0 0 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 0 1 0 0 0 0 1

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