ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.6852C>T (p.Thr2284=)

gnomAD frequency: 0.00006  dbSNP: rs777957099
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
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769582 SCV000900979 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-07-25 criteria provided, single submitter clinical testing
Invitae RCV001397551 SCV001599304 likely benign Adams-Oliver syndrome 5 2022-06-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001397551 SCV002553816 likely benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271023 SCV002553817 likely benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000769582 SCV003861092 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-12-06 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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.