Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000498112 | SCV000589518 | uncertain significance | not provided | 2022-10-18 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 11115377, 34486251, 25333066, 33437033, 33964006) |
Fulgent Genetics, |
RCV000764034 | SCV000894988 | uncertain significance | Polycystic kidney disease, adult type | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Molecular Genetics of Inherited Kidney Disorders Laboratory, |
RCV000498112 | SCV001422378 | uncertain significance | not provided | 2019-01-01 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000498112 | SCV002771594 | uncertain significance | not provided | 2022-06-08 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000764034 | SCV003808397 | uncertain significance | Polycystic kidney disease, adult type | 2019-07-01 | criteria provided, single submitter | clinical testing |