ClinVar Miner

Submissions for variant NM_001242897.2(DEPDC5):c.4383C>T (p.Ser1461=) (rs370189053)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000548724 SCV000642201 likely benign Familial focal epilepsy with variable foci 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716336 SCV000847176 likely benign Seizures 2016-07-14 criteria provided, single submitter clinical testing In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as benign

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.