ClinVar Miner

Submissions for variant NM_003803.3(MYOM1):c.541T>C (p.Ser181Pro) (rs1962519)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000217589 SCV000269371 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Ser181Pro in exon 4 of MYOM1: This variant is not expected to have clinical sign ificance because it has been identified in 41.5% (3467/8348) of European America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://; dbSNP rs1962519).
Ambry Genetics RCV000618418 SCV000739817 benign Cardiovascular phenotype 2013-01-10 criteria provided, single submitter clinical testing
GeneDx RCV000838118 SCV000979982 benign not provided 2018-06-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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