ClinVar Miner

Submissions for variant NM_006758.3(U2AF1):c.470A>C (p.Gln157Pro)

dbSNP: rs371246226
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
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003321588 SCV004026006 likely pathogenic not provided 2022-03-15 criteria provided, single submitter clinical testing PM1, PP4_MOD, PP3, PP2, PM2_SUP
Database of Curated Mutations (DoCM) RCV000427799 SCV000504777 likely pathogenic Acute myeloid leukemia 2016-03-10 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000438020 SCV000504778 not provided Myelodysplastic syndrome 2016-03-10 no assertion 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.