ClinVar Miner

Submissions for variant NM_016222.4(DDX41):c.719delinsCG (p.Ile240fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bone Marrow Failure laboratory,Queen Mary University London 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.

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