ClinVar Miner

Submissions for variant NM_016222.4(DDX41):c.142C>T (p.Gln48Ter)

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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 RCV001256176 SCV001432960 likely pathogenic Acute myeloid leukemia 2020-09-01 no assertion criteria provided research This heterozygous stop-gain variant of DDX41 was identified in a 54-year old male with AML. His father and two paternal uncles died of leukemia but have not been tested. The following ACMG/AMP criteria were used: PVS1, PP3

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