ClinVar Miner

Variants studied for Nonsyndromic genetic hearing loss

Coded as:
Minimum submission review status: Collection method:
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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 not provided total
109 72 60 24 26 1 287

Gene and significance breakdown #

Total genes and gene combinations: 51
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GJB2 44 17 17 4 5 0 84
OTOF 10 14 2 2 2 0 30
MYO15A 5 4 1 4 2 0 16
TBCEL-TECTA, TECTA 2 2 1 8 2 0 15
MYO7A 3 4 5 0 2 0 14
LOXHD1 4 7 1 0 0 0 12
CDH23 2 1 4 0 3 0 10
TMC1 7 3 0 0 0 0 9
DMXL2 0 0 8 0 0 0 8
MYO6 2 3 1 0 3 0 8
COCH, LOC100506071 1 0 3 0 3 0 7
STRC 4 2 0 0 0 0 6
KCNQ4 2 1 0 1 0 0 4
SYNE4 2 2 0 0 0 0 4
TMPRSS3 4 0 0 0 0 0 4
USH2A 4 0 0 0 0 0 4
CCDC50 0 0 1 0 2 0 3
CEACAM16 1 1 1 0 0 0 3
COL11A2 0 0 2 1 0 0 3
MYO3A 1 2 0 0 0 0 3
COL4A5 0 0 2 0 0 0 2
ILDR1 0 2 0 0 0 0 2
LARS2 2 0 0 0 0 0 2
MET 0 0 1 1 0 0 2
MYH14 0 1 1 0 0 0 2
OTOGL 0 1 1 0 0 0 2
POU3F4 1 1 0 0 0 0 2
TRIOBP 2 0 0 0 0 0 2
WFS1 0 1 0 0 1 0 2
ACTG1 1 0 0 0 0 0 1
B3GNT4, DIABLO 0 0 1 0 0 0 1
CABP2 0 0 1 0 0 0 1
CLDN14 0 0 1 0 0 0 1
CLDN9 0 0 1 0 0 0 1
CRYL1, GJB6 1 0 0 0 0 0 1
EYA4 1 0 0 0 0 0 1
GIPC3 0 0 1 0 0 0 1
GSDME 0 0 0 0 1 0 1
KARS1 1 0 0 0 0 0 1
LHFPL5 0 0 1 0 0 0 1
LOC112840921, OTOF 1 0 0 0 0 0 1
MITF 1 0 0 0 0 0 1
OTOA 0 0 0 1 0 0 1
OTOG 0 1 0 0 0 0 1
PDZD7 0 1 0 0 0 0 1
RDX 0 1 0 0 0 0 1
RIPOR2 0 0 1 0 0 0 1
SLC26A4 0 0 0 1 0 0 1
SLC26A5 0 0 0 0 0 1 1
SLC44A4 0 0 1 0 0 0 1
TNC 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ClinGen Hearing Loss Variant Curation Expert Panel 28 18 18 14 16 0 94
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 39 30 0 0 0 0 69
INGEBI, INGEBI / CONICET 38 7 12 4 8 0 69
Department of Pathology and Laboratory Medicine, Sinai Health System 1 1 25 4 2 0 33
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 15 0 0 0 1 19
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 5 1 0 0 0 0 6
Molecular Genetics, Royal Melbourne Hospital 3 0 2 1 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 3 1 0 0 5
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
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Laboratory of Human Genetics, 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
Dr. Hideyo Noguchi Regional Research Center, Autonomous University of Yucatán 0 1 0 0 0 0 1

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