ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.6744C>T (p.Asn2248=)

gnomAD frequency: 0.00010  dbSNP: rs372771288
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
Ambry Genetics RCV000769584 SCV000739368 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-08-09 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.
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000680582 SCV000808002 likely benign Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769584 SCV000900981 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-02-18 criteria provided, single submitter clinical testing
GeneDx RCV000842227 SCV000984228 likely benign not provided 2018-04-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001469649 SCV001673730 likely benign Adams-Oliver syndrome 5 2023-12-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001469649 SCV002553829 likely benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270872 SCV002553830 likely benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000842227 SCV004562325 likely benign not provided 2023-09-25 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.