ClinVar Miner

Submissions for variant NM_016222.4(DDX41):c.1586_1587del (p.Thr529fs)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bone Marrow Failure laboratory,Queen Mary University London RCV001256170 SCV001432954 likely pathogenic Acute myeloid leukemia 2020-09-01 no assertion criteria provided research This heterozygous frameshift variant of DDX41 was identified in a 58-year old female with AML. Her mother had refractory anemia but has not been tested. Her daughter is an asymptomatic carrier of the variant. The following ACMG/AMP criteria were used: PVS1, PP3.

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.