ClinVar Miner

Variants studied for sensorineural hearing loss disorder

Included ClinVar conditions (30):
Minimum submission review status: Collection method:
Minimum conflict level:
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 total
30 23 30 0 1 84

Gene and significance breakdown #

Total genes and gene combinations: 64
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
​intergenic 2 1 1 0 4
GJB2 1 1 1 0 3
HARS2 0 3 0 0 3
MYO7A 1 0 2 0 3
CDH23 2 0 0 0 2
CEP78 2 0 0 0 2
ESPN 0 0 2 0 2
GGPS1 0 0 2 0 2
KARS1, LOC126862402 2 0 0 0 2
MRPS7 0 2 0 0 2
PEX6 2 0 0 0 2
SPNS2 0 1 1 0 2
TMIE 1 1 0 0 2
WFS1 1 0 0 1 2
ZSCAN10 2 0 0 0 2
AFG3L2 1 0 0 0 1
AIFM1, RAB33A 0 1 0 0 1
ATP6V0A4 0 1 0 0 1
BRF1 1 0 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
CHN1 0 1 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
FOXP4 1 0 0 0 1
GABRA1 0 0 1 0 1
GIPC3 0 1 0 0 1
GSDME 0 0 1 0 1
HARS2, LOC119407423 0 1 0 0 1
KIF1A 0 0 1 0 1
LARS1 0 0 1 0 1
LMX1A 1 0 0 0 1
MT-CYB 0 0 1 0 1
MT-TL1 1 0 0 0 1
MYH14 0 0 1 0 1
MYO3A 1 0 0 0 1
NARS2 0 1 0 0 1
NEFL 0 1 0 0 1
PLSCR4 0 0 1 0 1
POGZ 1 0 0 0 1
PTPRQ 0 0 1 0 1
RET 1 0 0 0 1
RRM2B 0 1 0 0 1
SCP2 0 0 1 0 1
SLC12A2 1 0 0 0 1
SLC52A2 0 1 0 0 1
SOX3 0 0 1 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
TFAM 0 0 1 0 1
TMCO1 1 0 0 0 1
TOP1MT 0 0 1 0 1
TOP3A 0 0 1 0 1
USH2A 0 1 0 0 1
USP31 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 31
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance benign total
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences 6 5 10 0 21
Reproductive Development, Murdoch Childrens Research Institute 2 2 4 0 8
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 2 3 0 7
Center for Personalized Medicine, Children's Hospital Los Angeles 2 1 2 0 5
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 2 1 1 0 4
Dept. of Evolution and Genomic Sciences, University of Manchester 0 4 0 0 4
Institute of Human Genetics, University of Goettingen 0 0 2 0 2
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
Area of Clinical and Molecular Genetics, Hospital Universitario Vall de Hebron 1 1 0 0 2
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 1 0 2
Sharon lab, Hadassah-Hebrew University Medical Center 2 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 2
Medical Genetics Laboratory, Tarbiat Modares University 0 1 1 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 1
Center for Neuroscience and Cell Biology, University of Coimbra, Portugal 0 0 1 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 1 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 1 0 0 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
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 1
Laboratoire de Genetique Biologique, CHU de Poitiers 0 1 0 0 1
Genetics of Mitochondrial Diseases, Imagine Institute 1 0 0 0 1
ClinGen Hearing Loss Variant Curation Expert Panel 1 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 1
Ramesar Group, Division of Human Genetics, Institute of Infectious Diseases and Molecular Medicine, UCT/MRC Genomic and Precision Medicine Research Unit, University of Cape Town 0 1 0 0 1
Neurogenetics, IRCCS Istituto delle Scienze Neurologiche di Bologna 1 0 0 0 1
Clinica Universidad de La Sabana, Universidad de La Sabana 1 0 0 0 1
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 0 0 1 1

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