Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000522588 | SCV000618296 | uncertain significance | not provided | 2019-11-21 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes splice predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Not observed in large population cohorts (Lek 2016) |
Ambry Genetics | RCV001011861 | SCV001172235 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-05-22 | criteria provided, single submitter | clinical testing | The c.1495-3C>T intronic variant results from a C to T substitution 3 nucleotides upstream from coding exon 12 in the POLD1 gene. This nucleotide position is highly conserved in available vertebrate species. Using two different splice site prediction tools, this alteration is predicted by ESEfinder to weaken the efficiency of the native splice acceptor site, but is not predicted to have a deleterious effect on this splice acceptor site by BDGP; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Invitae | RCV001229554 | SCV001402001 | likely benign | Colorectal cancer, susceptibility to, 10 | 2024-01-16 | criteria provided, single submitter | clinical testing |