Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Fulgent Genetics, |
RCV000985016 | SCV002801474 | uncertain significance | Polycystic kidney disease, adult type | 2022-03-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003329353 | SCV004036211 | uncertain significance | not provided | 2023-03-20 | 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: 35778421) |
Biochemical Molecular Genetic Laboratory, |
RCV000985016 | SCV001132947 | uncertain significance | Polycystic kidney disease, adult type | 2019-08-25 | no assertion criteria provided | clinical testing |