Submissions for variant NM_001035.3(RYR2):c.9996G>A (p.Thr3332=)

gnomAD frequency: 0.00003  dbSNP: rs760131228

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000423025	SCV000529476	likely benign	not specified	2016-07-08	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002525433	SCV000637640	likely benign	Catecholaminergic polymorphic ventricular tachycardia 1	2023-10-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000619927	SCV000738129	likely benign	Cardiovascular phenotype	2017-09-11	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.
Color Diagnostics, LLC DBA Color Health	RCV001178165	SCV001342541	likely benign	Cardiomyopathy	2018-10-21	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV004000469	SCV004815133	likely benign	Catecholaminergic polymorphic ventricular tachycardia	2024-02-05	criteria provided, single submitter	clinical testing