Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000712668 | SCV000843187 | pathogenic | not provided | 2018-07-11 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002477649 | SCV002782693 | pathogenic | Polycystic kidney disease, adult type | 2022-01-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000712668 | SCV003926058 | pathogenic | not provided | 2022-11-22 | 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: 22508176) |