Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Bone Marrow Failure laboratory, |
RCV001256168 | SCV001432952 | pathogenic | Acute myeloid leukemia | 2020-08-28 | no assertion criteria provided | research | This heterozygous frameshift variant of DDX41 was identified in a 59-year old male with AML. His mother had AML but has not been tested. The following ACMG/AMP criteria were used: PVS1, PM2, PP3. |