ClinVar Miner

Submissions for variant NM_003803.4(MYOM1):c.2673G>C (p.Leu891=)

gnomAD frequency: 0.01425  dbSNP: rs115240600
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Total submissions: 4
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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 RCV000222557 SCV000269355 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Leu891Leu in exon 18 of MYOM1: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 4.1% (157/3794) of African American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS; dbSNP rs115240600).
Labcorp Genetics (formerly Invitae), Labcorp RCV000468257 SCV000561233 benign Hypertrophic cardiomyopathy 2025-02-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619077 SCV000739829 benign Cardiovascular phenotype 2013-01-24 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
Breakthrough Genomics, Breakthrough Genomics RCV004709392 SCV005248176 benign not provided criteria provided, single submitter not provided

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