ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.561G>C (p.Pro187=)

gnomAD frequency: 0.00022  dbSNP: rs538441046
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000477639 SCV000559470 benign Acute myeloid leukemia 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001683516 SCV001901920 benign not provided 2020-08-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821357 SCV002068716 likely benign not specified 2021-07-21 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256308 SCV002531756 likely benign Hereditary cancer-predisposing syndrome 2020-11-10 criteria provided, single submitter curation
PreventionGenetics, part of Exact Sciences RCV003972785 SCV004791545 likely benign CEBPA-related disorder 2019-03-07 criteria provided, single submitter 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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