ClinVar Miner

Variants studied for Autosomal recessive nonsyndromic hearing loss 70

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
8 2 8 0 6 24

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
PNPT1 8 1 8 6 23
LOC129933770, PNPT1 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 6
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Submitter pathogenic likely pathogenic uncertain significance benign total
Baylor Genetics 3 1 7 0 11
Genome-Nilou Lab 0 0 0 6 6
OMIM 3 0 0 0 3
Hereditary Hearing Loss Research Unit, University of Madras 1 1 0 0 2
3billion 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 1

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