ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.471C>A (p.Ser157=)

dbSNP: rs141804012
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 RCV001183495 SCV001349242 likely benign Cardiomyopathy 2019-06-26 criteria provided, single submitter clinical testing
Invitae RCV001219919 SCV001391884 likely benign Lethal congenital glycogen storage disease of heart 2023-12-11 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001183495 SCV002043492 likely benign Cardiomyopathy 2020-06-16 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.