ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.3117G>A (p.Thr1039=)

gnomAD frequency: 0.00817  dbSNP: rs36084504
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
PreventionGenetics, part of Exact Sciences RCV000253284 SCV000314292 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000553515 SCV000636893 benign Hajdu-Cheney syndrome 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001545192 SCV001764471 likely benign not provided 2020-12-16 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000253284 SCV001978435 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000253284 SCV001980392 benign not specified 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.