Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Undiagnosed Diseases Network, |
RCV000708597 | SCV000837724 | uncertain significance | Polycystic kidney disease, adult type | 2017-10-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003148839 | SCV003836938 | 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; Has not been previously published as pathogenic or benign to our knowledge |