ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3249C>T (p.Cys1083=)

gnomAD frequency: 0.00053  dbSNP: rs139994842
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000474955 SCV000559919 benign Adams-Oliver syndrome 5 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000607038 SCV000732173 benign not specified 2017-08-17 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.
Ambry Genetics RCV000770637 SCV000738404 benign Familial thoracic aortic aneurysm and aortic dissection 2015-09-14 criteria provided, single submitter clinical testing This alteration is classified as 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770637 SCV000902088 benign Familial thoracic aortic aneurysm and aortic dissection 2018-08-27 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000474955 SCV002554526 benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270536 SCV002554528 benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000607038 SCV003928447 benign not specified 2023-04-10 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003736784 SCV004564806 benign not provided 2023-03-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV003736784 SCV005323761 benign not provided criteria provided, single submitter not provided

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.