ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.7482G>A (p.Val2494=)

dbSNP: rs1268405497
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000680578 SCV000807997 uncertain significance Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing
Invitae RCV002531415 SCV003481025 benign Adams-Oliver syndrome 5 2022-08-16 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.