Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001027075 | SCV001189577 | likely benign | Hereditary cancer-predisposing syndrome | 2018-10-24 | 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. |
Invitae | RCV002067706 | SCV002441023 | likely benign | Li-Fraumeni syndrome | 2021-03-28 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001027075 | SCV002582521 | likely benign | Hereditary cancer-predisposing syndrome | 2022-06-18 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002290560 | SCV002582823 | likely benign | Li-Fraumeni syndrome 1 | 2022-06-18 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001027075 | SCV004359982 | likely benign | Hereditary cancer-predisposing syndrome | 2023-12-04 | criteria provided, single submitter | clinical testing |