Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000076147 | SCV000107158 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Large deletion |
Invitae | RCV000076147 | SCV000253800 | pathogenic | Lynch syndrome | 2015-03-25 | criteria provided, single submitter | clinical testing | This sequence change is a gross deletion of the genomic region encompassing exons 9 and 10 of the MSH2 gene. This sequence change results in deletion of exons 9 and 10. Gross deletions in MSH2 are known to be pathogenic (PMID: 9843200). Specifically, a large deletion spanning exons 9 and 10 of the MSH2 gene has been reported in multiple individuals with Lynch syndrome (PMID: 14729822, 16837128, 18181177, 19173287). For these reasons, this variant has been classified as Pathogenic. |