Submissions for variant NM_001103.4(ACTN2):c.877-8C>G

gnomAD frequency: 0.77958  dbSNP: rs2288601

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000036923	SCV000060578	benign	not specified	2011-07-20	criteria provided, single submitter	clinical testing
GeneDx	RCV000036923	SCV000166848	benign	not specified	2013-01-31	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	RCV000036923	SCV000306602	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000358340	SCV000355902	likely benign	Hypertrophic cardiomyopathy	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000860038	SCV000999950	benign	Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy	2025-02-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001548846	SCV001768822	benign	Myopathy, congenital, with structured cores and z-line abnormalities	2021-07-14	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004710450	SCV005264442	likely benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000610173	SCV000733997	benign	Dilated cardiomyopathy 1AA		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000036923	SCV001924395	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000036923	SCV001953040	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000036923	SCV001975310	benign	not specified		no assertion criteria provided	clinical testing