Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000074647 | SCV000107849 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation resulting in a stop codon |
Institute for Clinical Genetics, |
RCV003321496 | SCV004026004 | pathogenic | not provided | 2022-03-23 | criteria provided, single submitter | clinical testing | PVS1, PM2_SUP, PS3 |
Myriad Genetics, |
RCV003450924 | SCV004185579 | pathogenic | Lynch syndrome 5 | 2023-08-11 | 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. |