Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001776817 | SCV002013678 | uncertain significance | not provided | 2020-12-07 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Sema4, |
RCV002256838 | SCV002529301 | uncertain significance | Fanconi anemia | 2021-05-20 | criteria provided, single submitter | curation |