Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001772249 | SCV001211314 | likely benign | not provided | 2024-01-06 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001772249 | SCV002003158 | uncertain significance | not provided | 2023-06-16 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown. |
Ce |
RCV001772249 | SCV002545092 | uncertain significance | not provided | 2022-06-01 | criteria provided, single submitter | clinical testing | POLE: PM2, BP4 |