ClinVar Miner

Submissions for variant NM_005157.6(ABL1):c.757T>C (p.Tyr253His)

dbSNP: rs121913461
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
OMIM RCV000013462 SCV000033709 pathogenic Leukemia, Philadelphia chromosome-positive, resistant to imatinib 2002-02-09 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000433552 SCV000505081 likely pathogenic Chronic myelogenous leukemia, BCR-ABL1 positive 2015-07-14 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000439817 SCV000505082 likely pathogenic Lymphoblastic leukemia, acute, with lymphomatous features 2015-07-14 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.