ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.811G>C (p.Ala271Pro)

gnomAD frequency: 0.00009  dbSNP: rs756632245
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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 RCV002184519 SCV002488952 benign Acute myeloid leukemia 2024-05-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV004973358 SCV005558699 benign Inborn genetic diseases 2024-08-20 criteria provided, single submitter clinical testing This alteration is classified as 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.

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