ClinVar Miner

Variants studied for autosomal recessive nonsyndromic deafness 53

Included ClinVar conditions (3):
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
3 3 5 0 0 2 13

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance not provided total
COL11A2 3 3 5 2 13

Submitter and significance breakdown #

Total submitters: 7
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Submitter pathogenic likely pathogenic uncertain significance not provided total
OMIM 3 0 0 0 3
Fulgent Genetics,Fulgent Genetics 0 0 3 0 3
Laboratory of Prof. Karen Avraham,Tel Aviv University 0 2 0 0 2
GenomeConnect, ClinGen 0 0 0 2 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 1 0 1

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