Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000228699 | SCV000283788 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-05-31 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001525775 | SCV001735960 | likely benign | Hereditary cancer-predisposing syndrome | 2020-03-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001525775 | SCV002610380 | likely benign | Hereditary cancer-predisposing syndrome | 2020-03-20 | 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, |
RCV003998727 | SCV004842805 | likely benign | Lynch syndrome | 2023-12-01 | criteria provided, single submitter | clinical testing |