ClinVar Miner

Variants studied for Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2

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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 not provided total
5 10 53 216 53 1 334

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ACTG1 4 10 52 210 48 1 321
ACTG1, LOC130061940 1 0 1 6 5 0 13

Submitter and significance breakdown #

Total submitters: 5
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 5 9 52 212 52 0 330
Fulgent Genetics, Fulgent Genetics 0 0 0 4 1 0 5
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Molecular Genetics Lab, CHRU Brest 0 1 0 0 0 0 1

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