Submissions for variant NM_003803.4(MYOM1):c.64G>C (p.Val22Leu)

dbSNP: rs1791085

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000218539	SCV000269374	benign	not specified	2014-11-24	criteria provided, single submitter	clinical testing	Val22Leu in exon 2 of MYOM1: This variant is not expected to have clinical signi ficance because it has been identified in 11.9% (501/4212) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs1791085).
Ambry Genetics	RCV000622051	SCV000739819	benign	Cardiovascular phenotype	2013-01-21	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	RCV001514339	SCV001722161	benign	Hypertrophic cardiomyopathy	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001640333	SCV001857836	benign	not provided	2018-09-06	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003977592	SCV004791611	benign	MYOM1-related condition	2019-10-21	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).