ClinVar Miner

Variants studied for Sensorineural hearing loss disorder

Coded as:
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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 16 17 0 1 46

Gene and significance breakdown #

Total genes and gene combinations: 38
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
GJB2 1 1 1 0 3
HARS2 0 3 0 0 3
CDH23 2 0 0 0 2
ESPN 0 0 2 0 2
SPNS2 0 1 1 0 2
TMIE 1 1 0 0 2
ATP6V0A4 0 1 0 0 1
CANX, CBY3, LTC4S, MAML1, MGAT4B, MRNIP, RASGEF1C, RNF130, SPATA31J1, SQSTM1, TBC1D9B 0 0 1 0 1
CARMIL1 0 0 1 0 1
CDC14A 1 0 0 0 1
CLCNKA 1 0 0 0 1
CLDN14 1 0 0 0 1
COL11A1 0 0 1 0 1
COL11A2 0 1 0 0 1
COL9A1 1 0 0 0 1
COX18 0 0 1 0 1
DBH 0 0 1 0 1
EDN3 0 1 0 0 1
GIPC3 0 1 0 0 1
GSDME 0 0 1 0 1
HARS2, LOC119407423 0 1 0 0 1
LMX1A 1 0 0 0 1
MYO3A 1 0 0 0 1
MYO7A 1 0 0 0 1
NARS2 0 1 0 0 1
PLSCR4 0 0 1 0 1
PTPRQ 0 0 1 0 1
SCP2 0 0 1 0 1
SLC12A2 1 0 0 0 1
SLC52A2 0 1 0 0 1
STX4 0 1 0 0 1
TBCEL-TECTA, TECTA 0 1 0 0 1
TCF19 0 0 1 0 1
TENM1 0 0 1 0 1
TOP3A 0 0 1 0 1
USH2A 0 1 0 0 1
USP31 0 0 1 0 1
WFS1 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance benign total
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences 6 5 10 0 21
Dept. of Evolution and Genomic Sciences, University of Manchester 0 4 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 2 0 3
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 0 1 0 2
Center for Statistical Genetics, Columbia University 1 1 0 0 2
Hereditary Hearing Loss Research Unit, University of Madras 1 1 0 0 2
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 1 0 2
Medical Genetics Laboratory, Tarbiat Modares University 0 1 1 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 1
Cytogenetics and Molecular Genetics Section, Pathology Unit, BARC Hospital, Bhabha Atomic Research Centre 1 0 0 0 1
Area of Clinical and Molecular Genetics, Hospital Universitario Vall de Hebron 0 1 0 0 1
Laboratoire de Genetique Biologique, CHU de Poitiers 0 1 0 0 1
ClinGen Hearing Loss Variant Curation Expert Panel 1 0 0 0 1
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 0 0 1 1

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