Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000972048 | SCV001119738 | likely benign | Gastrointestinal stromal tumor | 2023-09-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001010463 | SCV001170665 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-01-29 | criteria provided, single submitter | clinical testing | The c.1232-5T>C intronic variant results from a T to C substitution 5 nucleotides upstream from coding exon 8 in the KIT gene. This nucleotide position is well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to slightly weaken the efficiency of the native splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |