ClinVar Miner

Submissions for variant NM_005159.5(ACTC1):c.553C>T (p.Arg185Trp)

dbSNP: rs397517065
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000038333 SCV000062004 likely pathogenic Primary dilated cardiomyopathy 2010-05-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000622330 SCV000742090 likely pathogenic Inborn genetic diseases 2016-11-03 criteria provided, single submitter clinical testing

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