ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.12264C>T (p.His4088=)

dbSNP: rs1558404698
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
Color Diagnostics, LLC DBA Color Health RCV000772932 SCV000906314 likely benign Cardiomyopathy 2018-05-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002536640 SCV002382954 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2021-10-31 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003999993 SCV004819831 likely benign Catecholaminergic polymorphic ventricular tachycardia 2023-09-17 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.