Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV002469737 | SCV002765578 | uncertain significance | not provided | 2022-12-02 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 26453610) |
Fulgent Genetics, |
RCV005019213 | SCV005640973 | likely pathogenic | Polycystic kidney disease, adult type | 2024-03-28 | criteria provided, single submitter | clinical testing |