Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001188667 | SCV001355786 | likely benign | Hereditary cancer-predisposing syndrome | 2018-12-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002069037 | SCV002359026 | likely benign | Li-Fraumeni syndrome | 2023-08-02 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001188667 | SCV002582519 | likely benign | Hereditary cancer-predisposing syndrome | 2022-06-18 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002290624 | SCV002582819 | likely benign | Li-Fraumeni syndrome 1 | 2022-06-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001188667 | SCV002677708 | likely benign | Hereditary cancer-predisposing syndrome | 2020-03-25 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |