Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155025 | SCV000204708 | drug response | Tyrosine kinase inhibitor response | 2012-04-04 | criteria provided, single submitter | clinical testing | The 2237_2246delinsC variant in exon 19 of EGFR has not been previously reported in the literature or identified by our laboratory. This variant results in an in-frame deletion and insertion and is located in the protein kinase domain of EGFR. In-frame deletions in the kinase domain of EGFR have been shown to correlate with responsiveness to tyrosine-kinase inhibitor (TKI, Paez 2004, Lynch 2004). |