ClinVar Miner

Submissions for variant NM_001358.3(DHX15):c.1327A>G (p.Lys443Glu)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV003311602 SCV004009655 uncertain significance Seizure; Abnormal facial shape; Delayed speech and language development; Gray matter heterotopia; Intellectual disability, moderate; Periventricular heterotopia; Cerebral white matter hypoplasia; Patent ductus arteriosus criteria provided, single submitter research

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.