ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.3163A>T (p.Lys1055Ter) (rs869025461)

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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 RCV000208447 SCV000264039 likely pathogenic Primary familial hypertrophic cardiomyopathy 2015-11-10 criteria provided, single submitter clinical testing
GeneDx RCV001555410 SCV001776827 pathogenic not provided 2020-01-23 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); Reported in ClinVar as likely pathogenic (ClinVar Variant ID# 222702; Landrum et al., 2016); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 27532257, 22267749)

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