Submissions for variant NM_000432.4(MYL2):c.33G>A (p.Gly11=)

gnomAD frequency: 0.00011  dbSNP: rs199742269

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000036394	SCV000060049	likely benign	not specified	2008-03-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000036394	SCV000208834	benign	not specified	2014-06-30	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.
Invitae	RCV000457856	SCV000560080	benign	Hypertrophic cardiomyopathy 10	2024-01-31	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000771886	SCV000904647	benign	Cardiomyopathy	2018-06-11	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000457856	SCV001266580	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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000771886	SCV001333617	benign	Cardiomyopathy	2018-01-12	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002453303	SCV002612691	likely benign	Cardiovascular phenotype	2019-03-19	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000036394	SCV004028699	benign	not specified	2023-07-10	criteria provided, single submitter	clinical testing