ClinVar Miner

Submissions for variant NM_001353921.2(ARHGEF9):c.1306del (p.Glu436fs)

dbSNP: rs1602253296
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
Undiagnosed Diseases Network, NIH RCV000991201 SCV001142578 pathogenic Developmental and epileptic encephalopathy, 8 2019-08-16 criteria provided, single submitter clinical testing
Baylor Genetics RCV000991201 SCV001520089 pathogenic Developmental and epileptic encephalopathy, 8 2019-08-16 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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.