ClinVar Miner

Variants studied for autosomal dominant nonsyndromic deafness 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 total
28 1 4 0 2 34

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
KCNQ4 26 1 4 2 32
​intergenic 2 0 0 0 2

Submitter and significance breakdown #

Total submitters: 7
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Submitter pathogenic likely pathogenic uncertain significance benign total
ClinVar Staff, National Center for Biotechnology Information (NCBI) 17 0 0 0 17
GeneReviews 8 0 2 0 10
OMIM 9 0 0 0 9
Laboratory of Molecular Genetics,Brain Korea 21 PLUS Project for Medical Sciences, Yonsei University College of Medicine 3 0 0 0 3
Fulgent Genetics,Fulgent Genetics 0 0 2 0 2
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 2 2
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 0 1 0 0 1

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