ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1122C>T (p.Asp374=)

gnomAD frequency: 0.00148  dbSNP: rs192683347
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000227593 SCV000290239 benign Adams-Oliver syndrome 5 2024-01-22 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000596170 SCV000709222 benign not specified 2017-06-12 criteria provided, single submitter clinical testing
GeneDx RCV001705279 SCV000715448 likely benign not provided 2021-09-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002313946 SCV000739369 likely benign Familial thoracic aortic aneurysm and aortic dissection 2017-03-23 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.
CeGaT Center for Human Genetics Tuebingen RCV001705279 SCV001962596 likely benign not provided 2021-07-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000227593 SCV002555086 benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270030 SCV002555088 benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000596170 SCV004121920 benign not specified 2023-10-19 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.