ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.225C>T (p.His75=)

gnomAD frequency: 0.00003  dbSNP: rs776616401
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
Labcorp Genetics (formerly Invitae), Labcorp RCV002179724 SCV002336099 likely benign Adams-Oliver syndrome 5 2023-11-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002443101 SCV002736543 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-08-07 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.