Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001481798 | SCV001686148 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-12-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002368478 | SCV002664887 | likely benign | Hereditary cancer-predisposing syndrome | 2021-07-13 | 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. |
Color Diagnostics, |
RCV002368478 | SCV004356567 | likely benign | Hereditary cancer-predisposing syndrome | 2023-02-26 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004007150 | SCV004834120 | likely benign | Lynch syndrome | 2023-07-19 | criteria provided, single submitter | clinical testing |