ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2641G>A (p.Val881Ile) (rs727504360)

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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 RCV000154491 SCV000204161 uncertain significance not specified 2018-02-15 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Ambry Genetics RCV000618472 SCV000737072 uncertain significance Cardiovascular phenotype 2016-02-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,Rarity in general population databases (dbsnp, esp, 1000 genomes),In silico models in agreement (benign)

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