ClinVar Miner

Submissions for variant NM_022552.5(DNMT3A):c.1204C>T (p.Gln402Ter)

gnomAD frequency: 0.00001  dbSNP: rs796065342
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Advanced Molecular Diagnostics, Cytogenetics Laboratory, Brigham and Women's Hospital RCV000190418 SCV000239864 pathogenic Early T cell progenitor acute lymphoblastic leukemia no assertion criteria provided clinical testing Loss of function DNMT3A mutation found in myeloid leukemias and ETP-ALL

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