Submissions for variant NM_001035.3(RYR2):c.12609G>A (p.Ala4203=)

dbSNP: rs372943408

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000423279	SCV000519157	likely benign	not specified	2015-10-22	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Diagnostics, LLC DBA Color Health	RCV001191562	SCV001359424	likely benign	Cardiomyopathy	2018-12-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002524880	SCV001619259	likely benign	Catecholaminergic polymorphic ventricular tachycardia 1	2025-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002429380	SCV002677412	likely benign	Cardiovascular phenotype	2020-08-30	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.
All of Us Research Program, National Institutes of Health	RCV003996056	SCV004820355	likely benign	Catecholaminergic polymorphic ventricular tachycardia	2023-09-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV004597795	SCV005092873	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	RYR2: BP4, BP7