Submissions for variant NM_001035.3(RYR2):c.9672C>T (p.Ser3224=)

gnomAD frequency: 0.00006  dbSNP: rs370740528

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000127844	SCV000171426	benign	not specified	2014-05-06	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002514697	SCV000637636	likely benign	Catecholaminergic polymorphic ventricular tachycardia 1	2025-02-02	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000127844	SCV000710926	likely benign	not specified	2016-08-11	criteria provided, single submitter	clinical testing	p.Ser3224Ser in exon 68 of RYR2: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 9/66684 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitu te.org; dbSNP rs370740528).
Ambry Genetics	RCV000618292	SCV000738088	likely benign	Cardiovascular phenotype	2017-07-21	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	RCV001178579	SCV001343053	likely benign	Cardiomyopathy	2018-10-30	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV003997462	SCV004814595	likely benign	Catecholaminergic polymorphic ventricular tachycardia	2024-01-11	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000127844	SCV005886198	benign	not specified	2025-02-08	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001528732	SCV001740968	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000127844	SCV001917622	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001528732	SCV001954677	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001528732	SCV001974012	likely benign	not provided		no assertion criteria provided	clinical testing