Submissions for variant NM_000432.4(MYL2):c.381G>A (p.Ala127=)

gnomAD frequency: 0.00558  dbSNP: rs2233261

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000030325	SCV000052992	benign	Primary familial hypertrophic cardiomyopathy	2011-08-18	criteria provided, single submitter	clinical testing	Converted during submission to Benign.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000036402	SCV000060057	benign	not specified	2008-06-20	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000036402	SCV000203049	benign	not specified	2014-01-07	criteria provided, single submitter	clinical testing
Invitae	RCV000234665	SCV000284832	benign	Hypertrophic cardiomyopathy 10	2024-01-31	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000036402	SCV000304233	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000245283	SCV000318168	benign	Cardiovascular phenotype	2015-07-15	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000234665	SCV000745537	benign	Hypertrophic cardiomyopathy 10	2015-09-21	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000770392	SCV000901833	benign	Cardiomyopathy	2015-12-03	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000770392	SCV000904538	benign	Cardiomyopathy	2018-03-08	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000234665	SCV001272829	likely benign	Hypertrophic cardiomyopathy 10	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx	RCV001705608	SCV001838834	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV003125846	SCV004845830	benign	Hypertrophic cardiomyopathy	2024-02-05	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000036402	SCV001920313	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001705608	SCV001960096	likely benign	not provided		no assertion criteria provided	clinical testing
Cohesion Phenomics	RCV003125846	SCV003803046	benign	Hypertrophic cardiomyopathy	2022-10-10	no assertion criteria provided	clinical testing