ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.928_945dup (p.Leu315_Glu316insThrGlnGlnLysValLeu)

dbSNP: rs2145258824
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV002272730 SCV002556826 likely pathogenic Acute myeloid leukemia 2020-09-16 criteria provided, single submitter clinical testing The CEBPA c.928_945dupACGCAGCAGAAGGTGCTG variant is classified as Likely Pathogenic (PM1, PM2, PM4)

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