ClinVar Miner

Submissions for variant NM_001205293.3(CACNA1E):c.2774G>A (p.Arg925His)

gnomAD frequency: 0.00001  dbSNP: rs373971175
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
New York Genome Center RCV001291640 SCV001480214 uncertain significance Developmental and epileptic encephalopathy, 69 2021-03-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002069331 SCV002460546 benign not provided 2024-08-13 criteria provided, single submitter clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001251931 SCV001427677 likely benign Intellectual disability 2019-01-01 no assertion criteria provided 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.