ClinVar Miner

Submissions for variant NM_003803.4(MYOM1):c.644C>T (p.Thr215Met)

gnomAD frequency: 0.07696  dbSNP: rs2230165
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham 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).
Ambry Genetics RCV000620785 SCV000739804 benign Cardiovascular phenotype 2012-08-09 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Invitae RCV001514698 SCV001722604 benign Hypertrophic cardiomyopathy 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001610529 SCV001838444 benign not provided 2019-02-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003977591 SCV004787947 benign MYOM1-related condition 2019-11-27 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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