ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.294+15G>A

gnomAD frequency: 0.00004  dbSNP: rs750047302
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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 RCV000219127 SCV000270811 likely benign not specified 2015-04-07 criteria provided, single submitter clinical testing c.294+15G>A in intron 4 of RYR2: This variant is not expected to have clinical s ignificance because it is not located within the splice consensus sequence.
GeneDx RCV001668381 SCV001886376 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002517499 SCV002365802 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-01-24 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.