ClinVar Miner

Submissions for variant NM_005159.5(ACTC1):c.602C>T (p.Ser201Phe)

dbSNP: rs730880038
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485076 SCV000572731 uncertain significance not provided 2019-02-18 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016; McVean et al., 2012; Exome Variant Server); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Observed to segregate independently in a daughter with left ventricular dilation and mother with HCM and sudden death
Blueprint Genetics RCV000157093 SCV000206815 uncertain significance Primary dilated cardiomyopathy 2014-07-16 no assertion criteria provided clinical testing

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