ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.2922T>C (p.Ser974=)

gnomAD frequency: 0.00001  dbSNP: rs750392459
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002528368 SCV000637545 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-01-05 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001178163 SCV001342539 likely benign Cardiomyopathy 2019-08-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001724045 SCV004126203 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing RYR2: BP4, BP7
Clinical Genetics, Academic Medical Center RCV001700406 SCV001918223 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001724045 SCV001958139 likely benign not provided no assertion criteria provided 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.