Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000985999 | SCV001134765 | likely benign | not provided | 2019-01-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001018856 | SCV001180143 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-06-05 | criteria provided, single submitter | clinical testing | The c.910-5G>A intronic variant results from a G to A substitution 5 nucleotides upstream from coding exon 10 in the POLE 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 acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Gene |
RCV000985999 | SCV001771958 | uncertain significance | not provided | 2021-03-26 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown |
Sema4, |
RCV001018856 | SCV002536952 | likely benign | Hereditary cancer-predisposing syndrome | 2020-10-09 | criteria provided, single submitter | curation | |
Center for Genomic Medicine, |
RCV002268382 | SCV002550197 | likely benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing |