ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.5416A>G (p.Met1806Val)

gnomAD frequency: 0.00004  dbSNP: rs114479009
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000706747 SCV000835816 likely benign Adams-Oliver syndrome 5 2022-12-06 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798967 SCV002043531 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2020-12-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000706747 SCV002553351 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270986 SCV002553352 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507239 SCV002812805 uncertain significance Aortic valve disease 1; Adams-Oliver syndrome 5 2021-08-23 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.