ClinVar Miner

Submissions for variant NM_015559.3(SETBP1):c.2608G>A (p.Gly870Ser) (rs267607040)

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
Genetic Services Laboratory, University of Chicago RCV000001090 SCV000194893 pathogenic Schinzel-Giedion syndrome 2013-09-19 criteria provided, single submitter clinical testing
OMIM RCV000001090 SCV000021240 pathogenic Schinzel-Giedion syndrome 2011-04-01 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000442178 SCV000505749 not provided Chronic myelogenous leukemia, BCR-ABL1 positive 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.