ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1556-9C>T

gnomAD frequency: 0.00017  dbSNP: rs150834418
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
Invitae RCV000548117 SCV000659377 benign Adams-Oliver syndrome 5 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001697383 SCV000721952 likely benign not provided 2019-05-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000548117 SCV002555060 benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270674 SCV002555061 benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003925737 SCV004756003 likely benign NOTCH1-related condition 2019-03-11 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.