ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.2599+12G>C

gnomAD frequency: 0.01309  dbSNP: rs74117573
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
PreventionGenetics, part of Exact Sciences RCV000249731 SCV000314291 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001589273 SCV001822502 likely benign not provided 2018-07-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002058329 SCV002464550 benign Hajdu-Cheney syndrome 2025-02-03 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.