ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.756G>T (p.Ala252=)

gnomAD frequency: 0.00778  dbSNP: rs571969199
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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 RCV000468596 SCV000559466 benign Acute myeloid leukemia 2025-01-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000501331 SCV000593988 benign not specified 2018-11-15 criteria provided, single submitter clinical testing
GeneDx RCV001565158 SCV001788448 likely benign not provided 2020-12-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001565158 SCV005206948 likely benign not provided criteria provided, single submitter not provided
Ambry Genetics RCV004965486 SCV005558663 likely benign Inborn genetic diseases 2024-08-21 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.

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