Submissions for variant NM_001035.3(RYR2):c.14484G>T (p.Gly4828=)

gnomAD frequency: 0.00071  dbSNP: rs370996795

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000154826	SCV000204508	likely benign	not specified	2012-03-19	criteria provided, single submitter	clinical testing	Gly4828Gly in exon 101 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 0.1% (4/3164) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; rs370996795). Gly4828Gly in exon 1 01 of RYR2 (rs370996795, allele frequency = 0.1%, 4/3164) **
Eurofins Ntd Llc (ga)	RCV000726399	SCV000344392	uncertain significance	not provided	2016-08-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000618720	SCV000735661	likely benign	Cardiovascular phenotype	2016-12-08	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	RCV002516113	SCV001007375	benign	Catecholaminergic polymorphic ventricular tachycardia 1	2024-01-31	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001170492	SCV001333075	benign	Cardiomyopathy	2018-02-28	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001170492	SCV001357366	benign	Cardiomyopathy	2019-08-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000726399	SCV001856464	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000726399	SCV001740820	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000726399	SCV001972857	likely benign	not provided		no assertion criteria provided	clinical testing