ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.6612C>T (p.His2204=)

gnomAD frequency: 0.00161  dbSNP: rs141646642
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244218 SCV000304981 benign not specified 2017-01-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000535897 SCV000660000 benign RYR1-related disorder 2025-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001711548 SCV000714979 likely benign not provided 2021-01-28 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28952030)
All of Us Research Program, National Institutes of Health RCV003998974 SCV004820886 benign Malignant hyperthermia, susceptibility to, 1 2024-02-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001711548 SCV005911119 likely benign not provided 2025-03-01 criteria provided, single submitter clinical testing RYR1: BP4, BP7
Color Diagnostics, LLC DBA Color Health RCV003998974 SCV006061200 benign Malignant hyperthermia, susceptibility to, 1 2022-09-20 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.