Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001066220 | SCV001231225 | uncertain significance | Pancreatic adenocarcinoma | 2019-05-29 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). 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 with PALLD-related conditions. This sequence change disrupts the translational stop signal of the PALLD mRNA. It is expected to extend the length of the PALLD protein by 16 additional amino acid residues. |