Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000985933 | SCV001134652 | uncertain significance | not provided | 2019-03-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001061255 | SCV001225991 | uncertain significance | Colorectal cancer, susceptibility to, 10 | 2019-12-22 | 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 with POLD1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 26 of the POLD1 gene. It does not directly change the encoded amino acid sequence of the POLD1 protein. |