ClinVar Miner

Submissions for variant NM_000447.3(PSEN2):c.717G>A (p.Met239Ile)

dbSNP: rs63749884
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000009398 SCV000029616 pathogenic Alzheimer disease 4 2000-01-01 no assertion criteria provided literature only
GeneReviews RCV000009398 SCV000040677 not provided Alzheimer disease 4 no assertion provided literature only
VIB Department of Molecular Genetics, University of Antwerp RCV000084266 SCV000116402 not provided not provided no assertion provided not provided

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.