ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.5717C>T (p.Pro1906Leu)

gnomAD frequency: 0.00006  dbSNP: rs749054531
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000635076 SCV000756454 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2022-09-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483802 SCV002776271 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2022-03-09 criteria provided, single submitter clinical testing
Revvity Omics, Revvity Omics RCV003144407 SCV003828837 uncertain significance Hyperaldosteronism, familial, type IV 2020-02-29 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.