ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.942G>T (p.Val314=)

gnomAD frequency: 0.00009  dbSNP: rs377329266
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000631446 SCV000752519 likely benign Acute myeloid leukemia 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001766343 SCV002000310 uncertain significance not provided 2024-03-28 criteria provided, single submitter clinical testing In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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.