Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000075036 | SCV000108257 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation resulting in a stop codon |
Myriad Genetics, |
RCV003450993 | SCV004188309 | pathogenic | Lynch syndrome 5 | 2023-08-10 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation. |
Department of Pathology and Laboratory Medicine, |
RCV001353856 | SCV000592576 | pathogenic | not provided | no assertion criteria provided | clinical testing | Needs formal NVA with literature and database searches in the future, as per JLE. |