ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.5C>T (p.Ala2Val)

gnomAD frequency: 0.00011  dbSNP: rs927310190
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
GeneDx RCV001704643 SCV000571992 likely benign not provided 2021-04-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001362235 SCV001558243 benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-06-18 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.