ClinVar Miner

Submissions for variant NM_022552.5(DNMT3A):c.1279G>T (p.Glu427Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea RCV003320345 SCV004024266 pathogenic Tatton-Brown-Rahman overgrowth syndrome no assertion criteria provided clinical testing

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