ClinVar Miner

Submissions for variant NM_003803.3(MYOM1):c.644C>T (p.Thr215Met) (rs2230165)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000620785 SCV000739804 benign Cardiovascular phenotype 2012-08-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000215577 SCV000269373 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Thr215Met in exon 4 of MYOM1: This variant is not expected to have clinical sign ificance because it has been identified in 13.0% (531/4076) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs2230165).

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