Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department of Pathology and Laboratory Medicine, |
RCV000503735 | SCV000592558 | pathogenic | Lynch syndrome | criteria provided, single submitter | clinical testing | ||
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV002524135 | SCV001469557 | pathogenic | not provided | 2019-09-12 | criteria provided, single submitter | clinical testing | The variant results in the deletion of at least one complete exon, and is therefore predicted to result in the loss of a functional protein. Found in at least one patient with expected phenotype for this gene, and not found in general population data. |