Submissions for variant NM_001035.3(RYR2):c.10047G>A (p.Ser3349=)

gnomAD frequency: 0.00001  dbSNP: rs144428932

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000216212	SCV000270799	likely benign	not specified	2015-06-30	criteria provided, single submitter	clinical testing	p.Ser3349Ser in exon 69 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 4/8438 East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitu te.org; dbSNP rs144428932).
Color Diagnostics, LLC DBA Color Health	RCV000771958	SCV000904912	likely benign	Cardiomyopathy	2018-06-25	criteria provided, single submitter	clinical testing
Invitae	RCV003765376	SCV001668823	likely benign	Catecholaminergic polymorphic ventricular tachycardia 1	2023-05-22	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003897473	SCV004713857	likely benign	RYR2-related condition	2020-12-16	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).