ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.5421C>T (p.Asp1807=)

gnomAD frequency: 0.00004  dbSNP: rs376590737
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001702483 SCV000532991 likely benign not provided 2020-11-04 criteria provided, single submitter clinical testing
Invitae RCV000475470 SCV000559954 likely benign Adams-Oliver syndrome 5 2024-01-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000475470 SCV002554296 likely benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270444 SCV002554297 likely benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702483 SCV001929880 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001702483 SCV001975209 likely benign not provided no assertion criteria provided 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.