ClinVar Miner

Submissions for variant NM_003803.3(MYOM1):c.1799A>T (p.Glu600Val) (rs9807556)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618686 SCV000739843 benign Cardiovascular phenotype 2013-02-26 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
Invitae RCV000470399 SCV000561225 benign Hypertrophic cardiomyopathy 2018-01-05 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000220576 SCV000269343 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Glu600Val in exon 12 of MYOM1: This variant is not expected to have clinical sig nificance because it has been identified in 4.9% (184/3786) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs9807556).

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