ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.12951G>A (p.Val4317=)

gnomAD frequency: 0.00001  dbSNP: rs957481378
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000872269 SCV001014058 likely benign RYR1-related disorder 2024-11-11 criteria provided, single submitter clinical testing
GeneDx RCV002272377 SCV002558374 uncertain significance not provided 2022-07-22 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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.