Submissions for variant NM_001035.3(RYR2):c.14703G>C (p.Val4901=)

gnomAD frequency: 0.00013  dbSNP: rs201371633

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000153880	SCV000203489	uncertain significance	not provided	2014-01-06	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000378694	SCV000356495	uncertain significance	Catecholaminergic polymorphic ventricular tachycardia	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000279576	SCV000356496	uncertain significance	Arrhythmogenic right ventricular cardiomyopathy	2016-06-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000619036	SCV000735718	likely benign	Cardiovascular phenotype	2016-11-30	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.
Invitae	RCV002516099	SCV000760732	likely benign	Catecholaminergic polymorphic ventricular tachycardia 1	2024-01-22	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000771788	SCV000904474	likely benign	Cardiomyopathy	2018-08-17	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000780696	SCV000918177	benign	not specified	2021-10-02	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000153880	SCV001371563	likely benign	not provided	2021-08-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000153880	SCV002008385	likely benign	not provided	2021-07-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003952755	SCV004769961	likely benign	RYR2-related condition	2019-07-15	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).