ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.4778-5C>T

gnomAD frequency: 0.00130  dbSNP: rs72552061
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001084631 SCV000632173 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-01-15 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711104 SCV000841431 benign not provided 2018-04-11 criteria provided, single submitter clinical testing
GeneDx RCV000711104 SCV002038664 likely benign not provided 2021-06-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000711104 SCV004133660 benign not provided 2023-07-01 criteria provided, single submitter clinical testing CACNA1H: BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003915511 SCV004734933 likely benign CACNA1H-related condition 2021-03-30 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.