ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4572G>A (p.Ala1524=)

gnomAD frequency: 0.00004  dbSNP: rs745794855
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
GeneDx RCV001697336 SCV000715927 likely benign not provided 2019-03-18 criteria provided, single submitter clinical testing
Invitae RCV002062938 SCV002419482 likely benign Adams-Oliver syndrome 5 2024-01-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002062938 SCV002554391 likely benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270738 SCV002554392 likely benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing

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.