ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.745T>C (p.Cys249Arg) (rs397516071)

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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,Partners HealthCare Personalized Medicine RCV000035664 SCV000059315 uncertain significance not specified 2015-05-16 criteria provided, single submitter clinical testing The p.Cys249Arg variant in MYBPC3 has been identified by our laboratory in 1 Afr ican American individual with DCM. It has also been identified in 1/8044 African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitu te.org; dbSNP rs397516071). Computational prediction tools and conservation anal ysis do not provide strong support for or against an impact to the protein. In s ummary, the clinical significance of the p.Cys249Arg variant is uncertain.
Ambry Genetics RCV000241606 SCV000320420 uncertain significance Cardiovascular phenotype 2015-11-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),Insufficient or conflicting evidence

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