ClinVar Miner

Submissions for variant NM_001987.4(ETV6):c.1046T>C (p.Leu349Pro) (rs786205155)

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
Diagnostic Molecular Genetics Laboratory,Memorial Sloan Kettering Cancer Center RCV000170464 SCV000222713 pathogenic Acute lymphoid leukemia; Thrombocytopenia 2015-03-17 no assertion criteria provided research Co-segregation in family
Diagnostic Molecular Genetics Laboratory,Memorial Sloan Kettering Cancer Center RCV000170465 SCV000222714 pathogenic Thrombocytopenia 2015-03-17 no assertion criteria provided research Co-segregation in family

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.