ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.988_989delinsCT (p.Glu330Leu)

dbSNP: rs2514324110
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wangler Lab, Baylor College of Medicine RCV002286328 SCV002574699 uncertain significance Primary dilated cardiomyopathy criteria provided, single submitter clinical testing This indel variant in MYH14 results in (p.Glu330Leu).This change was seen on exome through the Texome Project (R01HG011795). It is predicted to be deleterious and is highly conserved (PP3). This change is not seen on population databases of healthy individuals (PM2). We classify this variant to have uncertain significance.

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