Submissions for variant NM_000432.4(MYL2):c.279G>A (p.Ala93=)

gnomAD frequency: 0.00131  dbSNP: rs28645088

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000151361	SCV000170565	benign	not specified	2013-08-19	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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000151361	SCV000199347	likely benign	not specified	2015-10-31	criteria provided, single submitter	clinical testing	p.Ala93Ala in exon 5 of MYL2: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 0.4% (40/10404) of A frican chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadi nstitute.org; dbSNP rs28645088).
Ambry Genetics	RCV000253500	SCV000319810	likely benign	Cardiovascular phenotype	2015-06-29	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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	RCV000471087	SCV000560082	benign	Hypertrophic cardiomyopathy 10	2024-01-08	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000471087	SCV000745540	benign	Hypertrophic cardiomyopathy 10	2015-09-21	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000770395	SCV000901836	benign	Cardiomyopathy	2023-01-20	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000770395	SCV001354079	benign	Cardiomyopathy	2018-11-27	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000151361	SCV001478610	benign	not specified	2021-01-28	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000151361	SCV001925156	benign	not specified		no assertion criteria provided	clinical testing