ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.1800C>T (p.Asp600=)

gnomAD frequency: 0.00007  dbSNP: rs374489703
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001409837 SCV001611871 likely benign RYR1-Related Disorders 2022-09-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000864177 SCV002563527 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing RYR1: BP4, BP7

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.