ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.9585C>T (p.Ala3195=)

dbSNP: rs1970955862
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001171803 SCV001334665 likely benign not provided 2020-02-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003757220 SCV004402563 likely benign RYR1-related disorder 2023-02-21 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004803438 SCV005425209 likely benign Malignant hyperthermia, susceptibility to, 1 2024-05-30 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.