ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.1092C>T (p.Ile364=)

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 RCV002918541 SCV003257037 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2022-04-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003395536 SCV004133625 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing CACNA1H: 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.