Submissions for variant NM_001035.3(RYR2):c.3888C>T (p.Asn1296=)

gnomAD frequency: 0.00046  dbSNP: rs373721253

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000151759	SCV000200155	likely benign	not specified	2015-10-12	criteria provided, single submitter	clinical testing	p.Asn1296Asn in exon 31 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 0.1% (78/65372) o f European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org; dbSNP rs373721253).
Eurofins Ntd Llc (ga)	RCV000724268	SCV000229405	uncertain significance	not provided	2015-01-12	criteria provided, single submitter	clinical testing
Invitae	RCV002514691	SCV000554560	benign	Catecholaminergic polymorphic ventricular tachycardia 1	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000617215	SCV000735766	likely benign	Cardiovascular phenotype	2016-08-10	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000768762	SCV000900132	likely benign	Cardiomyopathy	2015-10-05	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000768762	SCV001356053	benign	Cardiomyopathy	2018-10-16	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000724268	SCV001501969	likely benign	not provided	2023-05-01	criteria provided, single submitter	clinical testing	RYR2: BP4, BP7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000151759	SCV002570670	benign	not specified	2022-07-18	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003945139	SCV004760793	likely benign	RYR2-related condition	2019-02-22	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).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000724268	SCV001741127	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000724268	SCV001927792	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000724268	SCV001954090	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000724268	SCV001964871	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000151759	SCV002034552	benign	not specified		no assertion criteria provided	clinical testing