Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002160058 | SCV002420612 | likely benign | EGFR-related lung cancer | 2022-07-03 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV003478938 | SCV004221893 | uncertain significance | not provided | 2023-09-05 | criteria provided, single submitter | clinical testing | To the best of our knowledge, this variant has not been reported in the published literature. It also has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on splicing yielded predictions that this variant does not affect EGFR mRNA splicing . Based on the available information, we are unable to determine the clinical significance of this variant. |