Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000076353 | SCV000107371 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Large deletion |
Invitae | RCV000470215 | SCV000563899 | pathogenic | Lynch syndrome | 2016-10-27 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon 13 of the MSH2 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. Loss-of-function variants in MSH2 are known to be pathogenic. A gross deletion of exon 13 has been reported in the literature in a family affected with Lynch syndrome (PMID: 8062247). For these reasons, this variant has been classified as Pathogenic. |
Department of Pathology and Laboratory Medicine, |
RCV000076353 | SCV000590999 | pathogenic | Lynch syndrome | 2015-03-11 | criteria provided, single submitter | clinical testing |