Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000992553 | SCV001144951 | likely pathogenic | not provided | 2019-05-10 | criteria provided, single submitter | clinical testing | The variant creates a premature nonsense codon, and is therefore predicted to result in the loss of a functional protein. Not found in the total gnomAD dataset, and the data is high quality (0/266904 chr). |
Cavalleri Lab, |
RCV001095552 | SCV001251183 | pathogenic | Polycystic kidney disease, adult type | 2020-02-05 | criteria provided, single submitter | research | PVS1, PM2, PP3, PP4, PP5 |
Gene |
RCV000992553 | SCV003921487 | pathogenic | not provided | 2022-11-01 | 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: 25525159, 17582161, 33454723) |