ClinVar Miner

Variants studied for autosomal dominant nonsyndromic hearing loss 2A

Included ClinVar conditions (1):
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 not provided total
28 12 34 11 17 8 101

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
KCNQ4 26 12 34 11 17 8 99
​intergenic 1 0 0 0 0 0 1
KCNQ4, LOC129930282 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Genome-Nilou Lab 1 2 21 10 16 0 50
ClinVar Staff, National Center for Biotechnology Information (NCBI) 17 0 0 0 0 0 17
GeneReviews 3 0 0 0 0 7 10
OMIM 9 0 0 0 0 0 9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 4 1 0 0 6
Revvity Omics, Revvity 0 1 3 0 0 0 4
Fulgent Genetics, Fulgent Genetics 0 1 3 0 0 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 1 2 0 0 0 0 3
Laboratory of Molecular Genetics, Brain Korea 21 PLUS Project for Medical Sciences, Yonsei University College of Medicine 3 0 0 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 2 0 2
Mendelics 1 0 0 0 1 0 2
Laboratory of Prof. Karen Avraham, Tel Aviv University 0 0 2 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 2
Institute of Rare Diseases, West China Hospital, Sichuan University 0 2 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 0 1 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 1

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