ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.333G>T (p.Ala111=)

dbSNP: rs2145262901
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sema4, Sema4 RCV002257353 SCV002531736 likely benign Hereditary cancer-predisposing syndrome 2021-11-22 criteria provided, single submitter curation
Labcorp Genetics (formerly Invitae), Labcorp RCV003094263 SCV002977834 likely benign Acute myeloid leukemia 2022-04-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003896092 SCV004713799 likely benign CEBPA-related disorder 2021-07-04 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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