ClinVar Miner

Submissions for variant NM_001754.4(RUNX1):c.484A>G (p.Arg162Gly) (rs1057519751)

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
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851801 SCV000899769 uncertain significance Abnormal platelet function 2019-02-01 criteria provided, single submitter research
Database of Curated Mutations (DoCM) RCV000434358 SCV000504775 likely pathogenic Acute myeloid leukemia 2014-10-02 no assertion criteria provided literature only

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.