ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.3825A>G (p.Ter1275Trp) (rs727504380)

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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 RCV000788694 SCV000927891 uncertain significance not provided 2018-08-29 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154539 SCV000204211 likely pathogenic Hypertrophic cardiomyopathy 2013-02-12 no assertion criteria provided clinical testing proposed classification - variant undergoing re-assessment, contact laboratory

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