ClinVar Miner

Variants studied for Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5

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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
5 6 211 196 6 424

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 total
ACTC1, GJD2-DT 5 6 208 196 6 421
ACTC1 0 0 2 0 0 2
ACTC1, GJD2, GOLGA8A, GOLGA8B, LPCAT4, NOP10, NUTM1, SLC12A6 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 2
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 5 6 209 196 6 422
Fulgent Genetics, Fulgent Genetics 1 0 9 3 0 13

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