Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000196400 | SCV000253802 | pathogenic | Lynch syndrome | 2015-03-19 | criteria provided, single submitter | clinical testing | This sequence change is a gross deletion of the genomic region encompassing exons 11-16 of the MSH2 gene. Truncating variants in MSH2 are known to be pathogenic. This particular truncation has been reported in the literature (PMID: PMID: 24039744, 17582678). This variant was reported to segregate with disease in a family with Lynch syndrome (PMID: 17582678). This variant has been classified as Pathogenic by InSiGHT group (http://insight-group.org/) For these reasons, this variant has been classified as Pathogenic. |