Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Cavalleri Lab, |
RCV001095611 | SCV001251247 | pathogenic | Polycystic kidney disease, adult type | 2020-02-05 | criteria provided, single submitter | research | PVS1, PM2, PP4, PP5 |
Gene |
RCV004726880 | SCV005332373 | pathogenic | not provided | 2023-12-21 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 33454723) |