Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000985928 | SCV000527842 | likely benign | not provided | 2020-10-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000563325 | SCV000670937 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-04-26 | criteria provided, single submitter | clinical testing | The c.2388+4C>T intronic variant results from a C to T substitution 4 nucleotides after coding exon 18 in the POLD1 gene. This nucleotide position is poorly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice donor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Invitae | RCV000645863 | SCV000767618 | likely benign | Colorectal cancer, susceptibility to, 10 | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000985928 | SCV001134640 | uncertain significance | not provided | 2019-03-21 | criteria provided, single submitter | clinical testing |