ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.10343C>T (p.Ser3448Phe) (rs193922836)

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
Leiden Muscular Dystrophy (RYR1) RCV000119408 SCV000154315 not provided not provided no assertion provided not provided
OMIM RCV000013863 SCV000034110 pathogenic Minicore myopathy 2005-12-27 no assertion criteria provided literature only

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.