Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000708776 | SCV000822223 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-01-01 | criteria provided, single submitter | clinical testing | This variant is a large genomic deletion which encompasses exons 11-16 of the MSH2 gene. This is expected to result in an absent or disrupted protein product. This variant has been described in the international literature in individuals with affected with Lynch syndrome (PMID: 17582678, 24039744) and in an individual undergoing panel testing for hereditary syndrome (PMID: 31159747). |