Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003076273 | SCV003449766 | uncertain significance | Acute myeloid leukemia | 2022-07-21 | 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 sequence change disrupts the translational stop signal of the CEBPA mRNA. It is expected to extend the length of the CEBPA protein by 39 additional amino acid residues. This variant is not present in population databases (gnomAD no frequency). |