Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000213990 | SCV000276197 | likely benign | Hereditary cancer-predisposing syndrome | 2015-06-04 | 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. |
Labcorp Genetics |
RCV001423942 | SCV001626532 | likely benign | Li-Fraumeni syndrome | 2019-09-20 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000213990 | SCV002582574 | likely benign | Hereditary cancer-predisposing syndrome | 2022-06-18 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002288874 | SCV002582875 | likely benign | Li-Fraumeni syndrome 1 | 2022-06-18 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000213990 | SCV004360001 | likely benign | Hereditary cancer-predisposing syndrome | 2023-04-11 | criteria provided, single submitter | clinical testing |