Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000076146 | SCV000107157 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Large deletion |
Invitae | RCV000258042 | SCV000260712 | pathogenic | Lynch syndrome | 2016-05-27 | criteria provided, single submitter | clinical testing | This sequence change is a gross deletion of the genomic region encompassing exon 9 of the MSH2 gene. Deletion of exon 9 is expected to cause a frameshift and result in an absent or disrupted protein product. Deletions of exon 9 have been reported in patients affected with Lynch syndrome (PMID: 18931482, 20591884, 15342696). For these reasons, this variant has been classified as Pathogenic. |