ClinVar Miner

Variants studied for Sensorineural hearing loss

Coded as:
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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 total
12 14 19 0 0 45

Gene and significance breakdown #

Total genes and gene combinations: 35
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
CDC14A 3 0 0 3
GJB2 1 1 1 3
HARS2 0 3 0 3
ESPN 0 0 2 2
GIPC3 0 1 1 2
PTPRQ 0 0 2 2
TMIE 1 1 0 2
ATP6V0A4 0 1 0 1
C5orf60, CANX, CBY3, LTC4S, MAML1, MGAT4B, MRNIP, RASGEF1C, RNF130, SQSTM1, TBC1D9B 0 0 1 1
CARMIL1 0 0 1 1
CDH23 0 1 0 1
CLCNKA 1 0 0 1
CLDN14 1 0 0 1
COL11A1 0 0 1 1
COL11A2 0 1 0 1
COL9A1 1 0 0 1
COX18 0 0 1 1
DBH 0 0 1 1
EDN3 0 1 0 1
GSDME 0 0 1 1
HARS2, LOC119407423 0 1 0 1
LMX1A 1 0 0 1
MYO3A 1 0 0 1
MYO7A 1 0 0 1
NARS2 0 1 0 1
PDZD7 0 0 1 1
PLSCR4 0 0 1 1
SCP2 0 0 1 1
SLC12A2 1 0 0 1
SLC52A2 0 1 0 1
TBCEL-TECTA, TECTA 0 1 0 1
TCF19 0 0 1 1
TENM1 0 0 1 1
TOP3A 0 0 1 1
USP31 0 0 1 1

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance total
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences 6 5 10 21
Kariminejad - Najmabadi Pathology & Genetics Center 3 0 4 7
Dept. of Evolution and Genomic Sciences,University of Manchester 0 4 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 2 3
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 0 1 2
Hereditary Hearing Loss Research Unit,University of Madras 1 1 0 2
Clinical Genetics laboratory, University of Goettingen 0 0 1 1
Institute of Human Genetics, Uniklinik RWTH Aachen 0 0 1 1
Center for Statistical Genetics, Columbia University 1 0 0 1
Area of Clinical and Molecular Genetics,Hospital Universitario Vall de Hebron 0 1 0 1
Laboratoire de Genetique Biologique, CHU de Poitiers 0 1 0 1
ClinGen Hearing Loss Variant Curation Expert Panel 0 1 0 1

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