Submissions for variant NM_001103.4(ACTN2):c.2610G>A (p.Ser870=)

gnomAD frequency: 0.16345  dbSNP: rs12063382

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000036905	SCV000060560	benign	not specified	2009-03-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000036905	SCV000166864	benign	not specified	2013-02-06	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	RCV000036905	SCV000306601	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000241737	SCV000317489	benign	Cardiovascular phenotype	2015-06-15	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.
Illumina Laboratory Services, Illumina	RCV000382094	SCV000355951	likely benign	Hypertrophic cardiomyopathy	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000860039	SCV000999951	benign	Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy	2025-02-04	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004710448	SCV005264456	likely benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000614267	SCV000734015	benign	Dilated cardiomyopathy 1AA		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000036905	SCV001920317	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000036905	SCV001952905	benign	not specified		no assertion criteria provided	clinical testing