Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Biology Laboratory, |
RCV001281309 | SCV001425147 | pathogenic | Polycystic kidney disease, adult type | 2020-02-01 | criteria provided, single submitter | research | |
Gene |
RCV004774361 | SCV005387090 | pathogenic | not provided | 2024-02-08 | criteria provided, single submitter | clinical testing | Frameshift 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: 33532864) |