Submissions for variant NM_016599.5(MYOZ2):c.459A>G (p.Glu153=)

gnomAD frequency: 0.07218  dbSNP: rs7687613

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039009	SCV000062687	benign	not specified	2011-09-22	criteria provided, single submitter	clinical testing
GeneDx	RCV000039009	SCV000170605	benign	not specified	2014-01-20	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics	RCV000247372	SCV000317556	benign	Cardiovascular phenotype	2015-06-17	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: 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.
Invitae	RCV000315825	SCV000563520	benign	Hypertrophic cardiomyopathy	2024-01-31	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000625401	SCV000745242	benign	Hypertrophic cardiomyopathy 16	2015-09-21	criteria provided, single submitter	clinical testing
Leiden Muscular Dystrophy (MYOZ2)	RCV000024479	SCV000045783	not provided	not provided	2012-04-20	no assertion provided	curation
Clinical Genetics, Academic Medical Center	RCV000039009	SCV001922122	benign	not specified		no assertion criteria provided	clinical testing