ClinVar Miner

Submissions for variant NM_003748.4(ALDH4A1):c.1560dup (p.Gly521fs) (rs779536510)

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
CeGaT Praxis fuer Humangenetik Tuebingen RCV001092591 SCV001249153 pathogenic not provided 2018-06-01 criteria provided, single submitter clinical testing
OMIM RCV000004209 SCV000024375 pathogenic Deficiency of pyrroline-5-carboxylate reductase 1998-09-01 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.