ClinVar Miner

Variants studied for Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Myopathy, early-onset, with fatal cardiomyopathy; Familial hypertrophic cardiomyopathy 9

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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
4 1 131 0 0 2 138

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance not provided total
TTN 4 1 130 2 137
LOC101927055, TTN 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 4
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Submitter pathogenic likely pathogenic uncertain significance not provided total
Fulgent Genetics,Fulgent Genetics 1 0 124 0 125
Baylor Genetics 3 0 4 0 7
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 3 0 4
GenomeConnect, ClinGen 0 0 0 2 2

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