Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000681766 | SCV001986131 | uncertain significance | not provided | 2019-12-10 | criteria provided, single submitter | clinical testing | Observed in multiple individuals with familial juvenile hyperuricaemic nephropathy / medullary cystic kidney disease (FJHN/MCKD) in published literature, however, additional information was not available (Bollee et al., 2011); Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 25786455, 21654721, 21868615) |
Gharavi Laboratory, |
RCV000681766 | SCV000809227 | likely pathogenic | not provided | 2018-09-16 | no assertion criteria provided | research |