ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.1381C>T (p.Leu461=)

gnomAD frequency: 0.00508  dbSNP: rs57112868
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001080899 SCV000632079 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-01-21 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000531821 SCV001143468 benign not provided 2019-01-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490978 SCV002803713 benign Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2021-08-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000531821 SCV005296408 benign not provided criteria provided, single submitter not provided

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.