ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.6222C>T (p.Phe2074=)

gnomAD frequency: 0.00045  dbSNP: rs373620549
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
Invitae RCV000890949 SCV001034731 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-01-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487953 SCV002802668 likely benign Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2021-08-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003392680 SCV004133670 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing CACNA1H: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003957948 SCV004780900 likely benign CACNA1H-related condition 2021-11-01 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.