Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000074822 | SCV000108033 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation resulting in a stop codon |
Center for Genomic Medicine, |
RCV002267829 | SCV002552328 | pathogenic | not provided | 2023-08-15 | criteria provided, single submitter | clinical testing |