ClinVar Miner

Submissions for variant NM_003803.3(MYOM1):c.91C>A (p.Arg31=) (rs76382984)

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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 RCV000219438 SCV000269377 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Arg31Arg in exon 2 of MYOM1: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. It has been identified in 1.3% (108/8472) of Eu ropean American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs76382984).
Invitae RCV000458958 SCV000561232 benign Hypertrophic cardiomyopathy 2017-07-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620000 SCV000739821 benign Cardiovascular phenotype 2012-09-20 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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