ClinVar Miner

Submissions for variant NM_003803.3(MYOM1):c.4358T>C (p.Met1453Thr) (rs16944397)

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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 RCV000620926 SCV000739824 benign Cardiovascular phenotype 2012-12-10 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 RCV000467301 SCV000561253 benign Hypertrophic cardiomyopathy 2017-08-04 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000213420 SCV000269364 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Met1453Thr in exon 32 of MYOM1: This variant is not expected to have clinical si gnificance because it has been identified in 15.1% (560/3712) of African America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs16944397).

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