ClinVar Miner

Submissions for variant NM_001278689.2(EOGT):c.78_81del (p.His27fs) (rs771160630)

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
Centre of Medical Genetics, University of Antwerp RCV000662245 SCV000747166 pathogenic Adams-Oliver syndrome 4 2017-12-01 criteria provided, single submitter research Found in a compound heterozgyosity with NM_001278689.1:c.1335-1G>A.

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.