ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.888C>T (p.Asp296=)

gnomAD frequency: 0.00009  dbSNP: rs775610804
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 RCV001392570 SCV001594214 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2023-09-22 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004006859 SCV004830515 likely benign Malignant hyperthermia, susceptibility to, 5 2023-06-08 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.