Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000992561 | SCV001144960 | likely pathogenic | not provided | 2018-09-24 | criteria provided, single submitter | clinical testing | Not found in the total gnomAD dataset, and the data is high quality (0/155376 chr). Statistically enriched in patients compared to ethnically matched controls. Predicted to have a damaging effect on the protein. |
Fulgent Genetics, |
RCV002489472 | SCV002803698 | pathogenic | Polycystic kidney disease, adult type | 2021-10-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000992561 | SCV003921192 | uncertain significance | not provided | 2022-11-01 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 17048214, 21551026, 17582161, 12842373, 26986070, 29860066, 22383692) |