Submissions for variant NM_000432.4(MYL2):c.132T>C (p.Ile44=)

gnomAD frequency: 0.08171  dbSNP: rs2301610

Total submissions: 17

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000036380	SCV000060035	benign	not specified	2008-01-18	criteria provided, single submitter	clinical testing
GeneDx	RCV000036380	SCV000170562	benign	not specified	2011-06-27	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.
PreventionGenetics, part of Exact Sciences	RCV000036380	SCV000304230	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000251488	SCV000317517	benign	Cardiovascular phenotype	2015-06-29	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.
Illumina Laboratory Services, Illumina	RCV000599777	SCV000376290	benign	Hypertrophic cardiomyopathy 10	2018-03-06	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000599777	SCV000744073	benign	Hypertrophic cardiomyopathy 10	2014-10-10	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000599777	SCV000745543	benign	Hypertrophic cardiomyopathy 10	2015-09-21	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000776005	SCV000910538	benign	Cardiomyopathy	2018-03-16	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000599777	SCV001000459	benign	Hypertrophic cardiomyopathy 10	2025-02-04	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000024462	SCV001156924	benign	not provided	2024-11-19	criteria provided, single submitter	clinical testing
Cohesion Phenomics	RCV003125836	SCV003803044	benign	Congestive heart failure	2022-10-10	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000024462	SCV005231451	benign	not provided		criteria provided, single submitter	not provided
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000036380	SCV006070178	benign	not specified	2025-04-09	criteria provided, single submitter	clinical testing
Leiden Muscular Dystrophy (MYL2)	RCV000024462	SCV000045763	not provided	not provided	2012-03-26	no assertion provided	curation
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000599777	SCV000733134	benign	Hypertrophic cardiomyopathy 10		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000036380	SCV001925787	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000036380	SCV001954639	benign	not specified		no assertion criteria provided	clinical testing