ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.6991G>A (p.Ala2331Thr) (rs111309246)

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
Ambry Genetics RCV000244050 SCV000320183 benign Cardiovascular phenotype 2015-09-22 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769580 SCV000900977 benign Thoracic aortic aneurysm and aortic dissection 2017-09-01 criteria provided, single submitter clinical testing
GeneDx RCV000121707 SCV000715028 benign not specified 2017-01-18 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.
ITMI RCV000121707 SCV000085905 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000230734 SCV000290303 benign Adams-Oliver syndrome 5 2017-06-11 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.