Submissions for variant NM_001035.3(RYR2):c.11246-11del

gnomAD frequency: 0.00038  dbSNP: rs397516503

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000036658	SCV000060313	uncertain significance	not specified	2012-01-09	criteria provided, single submitter	clinical testing	Variant classified as Uncertain Significance - Favor Benign. The 11246-11delA va riant (RYR2) has not been reported in the literature nor previously identified b y our laboratory. This variant located in the 3' splice region, but does not alt er the invariant -1 or -2 positions. Computational tools to not predict altered splicing, though the accuracy of these tools is unknown. Although this variant is likely to be benign, additional studies are needed to fully assess its clinic al significance.
PreventionGenetics, part of Exact Sciences	RCV000036658	SCV000306021	likely benign	not specified		criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000777963	SCV000914064	benign	Cardiomyopathy	2018-10-16	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001594822	SCV001470972	likely benign	not provided	2019-11-25	criteria provided, single submitter	clinical testing
GeneDx	RCV001594822	SCV001828826	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002513395	SCV002441005	benign	Catecholaminergic polymorphic ventricular tachycardia 1	2023-10-26	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV003996239	SCV004823181	benign	Catecholaminergic polymorphic ventricular tachycardia	2023-12-18	criteria provided, single submitter	clinical testing