ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.6784G>A (p.Gly2262Ser)

gnomAD frequency: 0.00001  dbSNP: rs780071276
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
Invitae RCV000655248 SCV000777178 benign Adams-Oliver syndrome 5 2022-12-16 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003480745 SCV004225184 uncertain significance not provided 2023-02-03 criteria provided, single submitter clinical testing BP4_strong

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.