ClinVar Miner

Submissions for variant NM_001242897.2(DEPDC5):c.3030+3812C>T (rs371377906)

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 RCV000858300 SCV000286370 likely benign Familial focal epilepsy with variable foci 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720559 SCV000851438 likely benign Seizures 2018-04-16 criteria provided, single submitter clinical testing Insufficient evidence;In silico models in agreement (benign);Subpopulation frequency in support of benign classification
GeneReviews RCV000230111 SCV000321034 pathogenic Epilepsy, familial focal, with variable foci 1 2016-04-13 no assertion criteria provided literature only
Bioinformatics Core,Luxembourg Center for Systems Biomedicine RCV000656074 SCV000588350 pathogenic Rolandic epilepsy 2017-01-01 no assertion criteria provided case-control CAADphred>15

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.