ClinVar Miner

Submissions for variant NM_022552.5(DNMT3A):c.920C>T (p.Pro307Leu)

dbSNP: rs759380437
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV000760251 SCV000890086 likely pathogenic Acute myeloid leukemia; Tatton-Brown-Rahman overgrowth syndrome 2017-11-07 criteria provided, single submitter clinical testing

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