ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4775T>G (p.Phe1592Cys)

dbSNP: rs796065341
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
Center for Advanced Molecular Diagnostics, Cytogenetics Laboratory, Brigham and Women's Hospital RCV000190416 SCV000239862 pathogenic Early T cell progenitor acute lymphoblastic leukemia no assertion criteria provided clinical testing Activating Notch1 mutation found in ETP-ALL and in T-ALL

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.