ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.2170+11G>A

gnomAD frequency: 0.10718  dbSNP: rs55645350
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
PreventionGenetics, part of Exact Sciences RCV000253357 SCV000307090 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001711680 SCV001944898 benign not provided 2018-07-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002057996 SCV002363232 benign Familial focal epilepsy with variable foci 2025-02-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001711680 SCV005275483 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.