ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.735C>T (p.Gly245=)

gnomAD frequency: 0.00007  dbSNP: rs925688689
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000868245 SCV001009549 likely benign Acute myeloid leukemia 2024-05-23 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002258013 SCV002537442 uncertain significance Hereditary cancer-predisposing syndrome 2021-09-23 criteria provided, single submitter curation
PreventionGenetics, part of Exact Sciences RCV004756052 SCV005358743 likely benign CEBPA-related disorder 2024-07-12 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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