ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.6823G>A (p.Val2275Met)

gnomAD frequency: 0.00001  dbSNP: rs756847750
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
Pediatric Department, Peking University First Hospital RCV001260946 SCV001245551 likely pathogenic Centronuclear myopathy 2020-04-11 criteria provided, single submitter provider interpretation
GeneDx RCV003325543 SCV004031601 likely pathogenic not provided 2024-06-05 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 35693006, 35081925, 12668474, 33767344)

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.