Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Biology Laboratory, |
RCV001281274 | SCV001425249 | pathogenic | Familial juvenile hyperuricemic nephropathy type 2 | 2020-02-01 | criteria provided, single submitter | research | |
Fulgent Genetics, |
RCV002496353 | SCV002810418 | pathogenic | Familial juvenile hyperuricemic nephropathy type 2; Renal tubular dysgenesis of genetic origin | 2022-02-17 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000014003 | SCV000034250 | pathogenic | Renal tubular dysgenesis | 2005-09-01 | no assertion criteria provided | literature only |