ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.612G>C (p.Pro204=)

gnomAD frequency: 0.00214  dbSNP: rs552634598
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000460691 SCV000559468 benign Acute myeloid leukemia 2025-01-20 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256307 SCV002531762 benign Hereditary cancer-predisposing syndrome 2020-09-06 criteria provided, single submitter curation
Breakthrough Genomics, Breakthrough Genomics RCV004717634 SCV005314362 benign not provided criteria provided, single submitter not provided
Ambry Genetics RCV004975552 SCV005558656 likely benign Inborn genetic diseases 2024-10-02 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003942547 SCV004762756 likely benign CEBPA-related disorder 2019-11-08 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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