Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000075370 | SCV000106365 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation resulting in a stop codon |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000985779 | SCV001134298 | pathogenic | not provided | 2019-04-14 | criteria provided, single submitter | clinical testing | The variant creates a premature nonsense codon, and is therefore predicted to result in the loss of a functional protein. Found in at least one symptomatic patient in literature, and not found in general population data. |
Sema4, |
RCV002255277 | SCV002528679 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-06-28 | criteria provided, single submitter | curation | |
Myriad Genetics, |
RCV003451069 | SCV004186356 | pathogenic | Colorectal cancer, hereditary nonpolyposis, type 2 | 2023-07-24 | 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. |