ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.357del (p.Ala120fs) (rs869025463)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000208099 SCV000264046 likely pathogenic Primary familial hypertrophic cardiomyopathy 2015-09-21 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000622761 SCV000740352 pathogenic not provided 2017-06-28 criteria provided, single submitter clinical testing

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