Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001016022 | SCV001176928 | likely benign | Hereditary cancer-predisposing syndrome | 2018-09-28 | 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. |
Invitae | RCV001407344 | SCV001609315 | likely benign | Retinoblastoma | 2021-02-03 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV001407344 | SCV004844758 | likely benign | Retinoblastoma | 2024-01-11 | criteria provided, single submitter | clinical testing |