Submissions for variant NM_003803.4(MYOM1):c.2715A>G (p.Glu905=)

gnomAD frequency: 0.00031  dbSNP: rs200170795

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000530821	SCV000623833	benign	Hypertrophic cardiomyopathy	2023-12-13	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004023684	SCV002743553	likely benign	not specified	2022-03-07	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Breakthrough Genomics, Breakthrough Genomics	RCV004710081	SCV005248175	benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV004537889	SCV004738278	likely benign	MYOM1-related disorder	2019-09-09	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).