ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.296GCG[7] (p.Gly104dup)

dbSNP: rs780345232
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
Invitae RCV000466650 SCV000548549 benign Acute myeloid leukemia 2024-01-16 criteria provided, single submitter clinical testing
Genomic Diagnostics Laboratory, National Institute of Medical Genomics RCV000466650 SCV002104198 likely pathogenic Acute myeloid leukemia criteria provided, single submitter clinical testing The variant was detected in bone marrow from patients, but it was not confirmed in the matched
Sema4, Sema4 RCV002258908 SCV002531735 likely benign Hereditary cancer-predisposing syndrome 2020-12-03 criteria provided, single submitter curation

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.