ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.7513-8T>G

dbSNP: rs727503402
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 RCV000151767 SCV000200179 uncertain significance not specified 2014-11-06 criteria provided, single submitter clinical testing The c.7513-8T>G variant in RYR2 has not been previously reported in individuals with cardiomyopathy or in large population studies. This variant is located in t he 3' splice region. Computational tools do not suggest an impact to splicing. H owever, this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of the c.7513-8T>G variant is uncertain.
Invitae RCV002516052 SCV000760707 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2022-08-30 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001177589 SCV001341826 likely benign Cardiomyopathy 2018-12-03 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.