ClinVar Miner

Submissions for variant NM_018245.3(OGDHL):c.2333C>T (p.Ser778Leu) (rs773888308)

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
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000454186 SCV000537921 likely pathogenic Abnormality of brain morphology criteria provided, single submitter research
OMIM RCV000678488 SCV000804551 uncertain significance not provided 2018-09-05 no assertion criteria provided literature only

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.