Submissions for variant NM_001035.3(RYR2):c.3270C>T (p.Ala1090=)

dbSNP: rs1344074824

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color Diagnostics, LLC DBA Color Health	RCV001525904	SCV001736110	likely benign	Cardiomyopathy	2021-02-16	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002568115	SCV002448522	likely benign	Catecholaminergic polymorphic ventricular tachycardia 1	2024-11-11	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002449355	SCV002612409	likely benign	Cardiovascular phenotype	2021-01-04	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	RCV004804224	SCV005426685	likely benign	Catecholaminergic polymorphic ventricular tachycardia	2024-07-29	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV001701192	SCV001923826	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001726579	SCV001966170	likely benign	not provided		no assertion criteria provided	clinical testing