ClinVar Miner

Submissions for variant NM_003803.3(MYOM1):c.2179A>G (p.Thr727Ala) (rs115382168)

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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 RCV000217351 SCV000269351 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Thr727Ala in exon 15 of MYOM1: This variant is not expected to have clinical sig nificance because it has been identified in 1.1% (42/3852) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs115382168).
Invitae RCV000229248 SCV000287993 benign not provided 2019-02-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620502 SCV000739830 benign Cardiovascular phenotype 2013-02-28 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

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