Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003634963 | SCV004433480 | uncertain significance | Acute myeloid leukemia | 2023-02-01 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals affected with CEBPA-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects codon 358 of the CEBPA mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CEBPA protein. |