ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.10441-48G>A

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Human Genetics Bochum, Ruhr University Bochum RCV003334425 SCV004042749 likely pathogenic Congenital multicore myopathy with external ophthalmoplegia 2023-08-29 criteria provided, single submitter clinical testing ACMG criteria used to clasify this variant: PS3, PS4_SUP, PM2_SUP, PM3

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.