Submissions for variant NM_001035.3(RYR2):c.774-14G>T

gnomAD frequency: 0.00031  dbSNP: rs370114411

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000612273	SCV000710924	uncertain significance	not specified	2016-08-23	criteria provided, single submitter	clinical testing	The c.774-14G>T variant in RYR2 has not been previously reported in individuals with cardiomyopathy but has been identified in 6/9594 African chromosomes by th e Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs37 0114411). This variant is located in the 3' splice region. Computational tools p redict some impact to splicing. However, this information is not predictive enou gh to determine pathogenicity. In summary, the clinical significance of the c.77 4-14G>T variant is uncertain.
GeneDx	RCV000828505	SCV000970197	likely benign	not provided	2018-05-25	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	RCV001189433	SCV001356721	likely benign	Cardiomyopathy	2018-12-18	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000828505	SCV001471876	likely benign	not provided	2020-03-18	criteria provided, single submitter	clinical testing
Invitae	RCV002531122	SCV002404322	benign	Catecholaminergic polymorphic ventricular tachycardia 1	2024-01-10	criteria provided, single submitter	clinical testing