ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3598G>A (p.Asp1200Asn)

gnomAD frequency: 0.00001  dbSNP: rs544640305
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000655259 SCV000777189 likely benign Adams-Oliver syndrome 5 2023-12-22 criteria provided, single submitter clinical testing
GeneDx RCV002509228 SCV002818882 uncertain significance not provided 2023-01-04 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign in association with a NOTCH1-related disorder to our knowledge; This variant is associated with the following publications: (PMID: 24728327)
ITMI RCV000121678 SCV000085876 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.