ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.2105-8A>G

gnomAD frequency: 0.00004  dbSNP: rs763822129
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
CeGaT Center for Human Genetics Tuebingen RCV001311498 SCV001501689 likely benign not provided 2020-07-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001431010 SCV001633761 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-12-22 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.