Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000953898 | SCV001100495 | likely benign | Gastrointestinal stromal tumor | 2023-08-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001012155 | SCV001172576 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-06-06 | criteria provided, single submitter | clinical testing | The c.1559-4G>C intronic variant results from a G to C substitution 4 nucleotides upstream from coding exon 10 in the PDGFRA 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. |