Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000878413 | SCV001021315 | likely benign | Retinoblastoma | 2024-01-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001013951 | SCV001174597 | likely benign | Hereditary cancer-predisposing syndrome | 2017-11-07 | 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, |
RCV000878413 | SCV004844714 | benign | Retinoblastoma | 2023-11-02 | criteria provided, single submitter | clinical testing |