Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001771092 | SCV002001408 | uncertain significance | not provided | 2021-01-08 | criteria provided, single submitter | clinical testing | Not observed 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 |
Fulgent Genetics, |
RCV002503225 | SCV002791157 | uncertain significance | Polycystic kidney disease 4 | 2021-10-01 | criteria provided, single submitter | clinical testing |