Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000076582 | SCV000107608 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Large deletion |
Invitae | RCV000477664 | SCV000299126 | pathogenic | Lynch syndrome | 2016-11-13 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 3-6 of the MSH2 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. Gross deletions in MSH2 are known to be pathogenic. Deletions of exon 3-6 have been reported in the literature in two Lynch syndrome families (PMID: 16251890, 16451135). For these reasons, this variant has been classified as Pathogenic. |
Department of Pathology and Laboratory Medicine, |
RCV000076582 | SCV000590989 | pathogenic | Lynch syndrome | 2013-08-26 | criteria provided, single submitter | clinical testing |