ClinVar Miner

Submissions for variant NM_016335.5(PRODH):c.1397C>T (p.Thr466Met) (rs2870984)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris RCV000004227 SCV000586797 likely pathogenic Proline dehydrogenase deficiency 2017-01-06 criteria provided, single submitter clinical testing Intellectual disability; epilepsy; schizophrenia
Invitae RCV000004227 SCV000631845 likely benign Proline dehydrogenase deficiency 2017-03-01 criteria provided, single submitter clinical testing
OMIM RCV000004227 SCV000024393 pathogenic Proline dehydrogenase deficiency 2007-10-01 no assertion criteria provided literature only
OMIM RCV000004228 SCV000024394 risk factor Schizophrenia 4 2007-10-01 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.