Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000074733 | SCV000107942 | likely benign | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Multifactorial likelihood analysis posterior probability 0.001-0.049 |
Invitae | RCV000858952 | SCV000561531 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-12-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000603690 | SCV000716435 | likely benign | not specified | 2017-09-05 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Color Diagnostics, |
RCV001190574 | SCV001358088 | likely benign | Hereditary cancer-predisposing syndrome | 2019-06-19 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV001190574 | SCV002535722 | likely benign | Hereditary cancer-predisposing syndrome | 2022-02-17 | criteria provided, single submitter | curation | |
Ambry Genetics | RCV001190574 | SCV002733503 | likely benign | Hereditary cancer-predisposing syndrome | 2015-12-04 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
All of Us Research Program, |
RCV000074733 | SCV004842049 | likely benign | Lynch syndrome | 2023-08-15 | criteria provided, single submitter | clinical testing |