ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.10917G>A (p.Thr3639=)

gnomAD frequency: 0.00004  dbSNP: rs371952058
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000488055 SCV000232416 uncertain significance not provided 2015-06-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000488055 SCV000575181 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing RYR1: BP4, BP7
GeneDx RCV000488055 SCV000722722 likely benign not provided 2019-09-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002054141 SCV002473178 likely benign RYR1-related disorder 2024-11-09 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000488055 SCV005877909 likely benign not provided 2024-03-22 criteria provided, single submitter clinical testing

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.