ClinVar Miner

Submissions for variant NM_003803.3(MYOM1):c.3945G>A (p.Thr1315=) (rs75748615)

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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 RCV000223076 SCV000269361 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Thr1315Thr in exon 27 of MYOM1: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 3.1% (122/3948) of African American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS; dbSNP rs75748615).
Invitae RCV000231197 SCV000288002 benign not provided 2019-02-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620139 SCV000739841 benign Cardiovascular phenotype 2013-07-18 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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