ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.861G>A (p.Val287=)

gnomAD frequency: 0.00001  dbSNP: rs981299051
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001431851 SCV001634612 likely benign Acute myeloid leukemia 2023-06-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004756243 SCV005346204 likely benign CEBPA-related disorder 2023-07-11 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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