Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000569166 | SCV000671001 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-09-12 | criteria provided, single submitter | clinical testing | The c.758+4C>G intronic variant results from a C to G substitution 4 nucleotides after coding exon 5 in the POLD1 gene. This nucleotide position is not well conserved in available vertebrate species. Using two different splice site prediction tools, this alteration is predicted by BDGP to weaken the efficiency of the native splice donor site, but is not predicted to have a deleterious effect on this splice donor site by ESEfinder; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Invitae | RCV000803222 | SCV000943084 | likely benign | Colorectal cancer, susceptibility to, 10 | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000842312 | SCV000984320 | likely benign | not provided | 2018-04-17 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |