ClinVar Miner

Submissions for variant NM_003803.3(MYOM1):c.5001G>A (p.Glu1667=) (rs376007739)

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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 RCV000220572 SCV000270571 likely benign not specified 2014-11-24 criteria provided, single submitter clinical testing Glu1667Glu in exon 38 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 0.1% (5/8600) of E uropean American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS).
Invitae RCV000234298 SCV000288009 likely benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617686 SCV000739889 likely benign Cardiovascular phenotype 2013-10-07 criteria provided, single submitter clinical testing

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