ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.6980G>A (p.Arg2327Gln) (rs202065858)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000475178 SCV000559868 likely benign Adams-Oliver syndrome 5 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621351 SCV000738413 uncertain significance Cardiovascular phenotype 2016-11-09 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV001170917 SCV001333565 benign Familial thoracic aortic aneurysm and aortic dissection 2017-11-27 criteria provided, single submitter clinical testing
ITMI RCV000121706 SCV000085904 not provided not specified 2013-09-19 no assertion provided reference population

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.