Submissions for variant NM_001035.3(RYR2):c.6906T>C (p.Leu2302=)

gnomAD frequency: 0.96110  dbSNP: rs707189

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000036783	SCV000060438	benign	not specified	2011-09-16	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000036783	SCV000230671	benign	not specified	2014-09-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000036783	SCV000306070	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000249527	SCV000317625	benign	Cardiovascular phenotype	2015-03-09	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Illumina Laboratory Services, Illumina	RCV000302537	SCV000356339	benign	Arrhythmogenic right ventricular dysplasia 2	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina	RCV000359593	SCV000356340	benign	Catecholaminergic polymorphic ventricular tachycardia 1	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Color Diagnostics, LLC DBA Color Health	RCV000771031	SCV000902528	benign	Cardiomyopathy	2018-03-15	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000359593	SCV001720981	benign	Catecholaminergic polymorphic ventricular tachycardia 1	2025-02-04	criteria provided, single submitter	clinical testing
GeneDx	RCV001711114	SCV001942981	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000302537	SCV002033012	benign	Arrhythmogenic right ventricular dysplasia 2	2021-11-07	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001841576	SCV002033013	benign	Cardiac arrhythmia	2021-11-07	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000359593	SCV002033014	benign	Catecholaminergic polymorphic ventricular tachycardia 1	2021-11-07	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV003996297	SCV004818930	benign	Catecholaminergic polymorphic ventricular tachycardia	2024-02-05	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001711114	SCV005280762	benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV000036783	SCV001920339	benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000036783	SCV001962975	benign	not specified		no assertion criteria provided	clinical testing