ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.2028G>A (p.Gly676=)

gnomAD frequency: 0.00003  dbSNP: rs369129616
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 RCV001474130 SCV001678296 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2024-11-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003334054 SCV004042035 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing CACNA1A: BP4, BP7

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.