Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001022849 | SCV001184631 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-11-19 | criteria provided, single submitter | clinical testing | The c.465-4G>C intronic variant results from a G to C substitution 4 nucleotides upstream from coding exon 4 in the STK11 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. |
Invitae | RCV001465068 | SCV001669051 | likely benign | Peutz-Jeghers syndrome | 2023-05-19 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001465068 | SCV002057253 | likely benign | Peutz-Jeghers syndrome | 2021-07-15 | criteria provided, single submitter | clinical testing |