ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.4410A>G (p.Gly1470=)

gnomAD frequency: 0.00003  dbSNP: rs727503399
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000151761 SCV000200158 likely benign not specified 2014-03-13 criteria provided, single submitter clinical testing Gly1470Gly in exon 33 of RYR2: This variant not expected to have clinical signif icance because it does not alter an amino acid residue and is not located within the splice consensus sequence.
Labcorp Genetics (formerly Invitae), Labcorp RCV002516051 SCV001047210 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2023-11-14 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001185784 SCV001352075 likely benign Cardiomyopathy 2019-02-16 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003998220 SCV004818188 likely benign Catecholaminergic polymorphic ventricular tachycardia 2024-02-05 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.