Submissions for variant NM_000432.4(MYL2):c.36C>T (p.Gly12=)

gnomAD frequency: 0.00072  dbSNP: rs139794370

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000036399	SCV000060054	likely benign	not specified	2013-08-22	criteria provided, single submitter	clinical testing	Gly12Gly in exon 2 of MYL2: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.1% (5/4406) of Afric an American chromosomes from a broad population by the NHLBI Exome Sequencing Pr oject (http://evs.gs.washington.edu/EVS/; dbSNP rs139794370). Gly12Gly in exon 2 of MYL2 (rs139794370; allele frequency = 0.1%, 5/4406) **
GeneDx	RCV001719731	SCV000513818	likely benign	not provided	2020-10-09	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000457321	SCV000560086	benign	Hypertrophic cardiomyopathy 10	2025-01-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000622196	SCV000740092	likely benign	Cardiovascular phenotype	2017-02-01	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.
Color Diagnostics, LLC DBA Color Health	RCV001178576	SCV001343048	benign	Cardiomyopathy	2018-11-25	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000036399	SCV001432011	benign	not specified	2020-08-24	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000036399	SCV001924384	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001719731	SCV001955943	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001719731	SCV001969631	likely benign	not provided		no assertion criteria provided	clinical testing