Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Cavalleri Lab, |
RCV001095553 | SCV001251184 | pathogenic | Polycystic kidney disease, adult type | 2020-02-05 | criteria provided, single submitter | research | PVS1, PM2, PP4, PP5 |
Athena Diagnostics Inc | RCV001289046 | SCV001476600 | pathogenic | not provided | 2019-09-20 | 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. Found in at least one patient with expected phenotype for this gene, and not found in general population data. |
Fulgent Genetics, |
RCV001095553 | SCV002802227 | pathogenic | Polycystic kidney disease, adult type | 2021-10-15 | criteria provided, single submitter | clinical testing |