Submissions for variant NM_001035.3(RYR2):c.1143C>T (p.Ser381=)

gnomAD frequency: 0.00105  dbSNP: rs368844286

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000036662	SCV000060317	likely benign	not specified	2015-12-23	criteria provided, single submitter	clinical testing	p.Ser381Ser in exon 13 of RYR2: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 0.3% (28/9792) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broad institute.org; dbSNP rs368844286).
GeneDx	RCV000036662	SCV000171401	benign	not specified	2014-04-29	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	RCV000036662	SCV000306024	likely benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000251332	SCV000320113	likely benign	Cardiovascular phenotype	2015-07-28	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.
Invitae	RCV002513398	SCV000554601	benign	Catecholaminergic polymorphic ventricular tachycardia 1	2024-01-22	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001191835	SCV001359749	benign	Cardiomyopathy	2018-10-21	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV003996241	SCV004846714	benign	Catecholaminergic polymorphic ventricular tachycardia	2024-02-05	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001530034	SCV001744548	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001530034	SCV001974176	likely benign	not provided		no assertion criteria provided	clinical testing