Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV000208133 | SCV000264318 | likely pathogenic | Familial idiopathic steroid-resistant nephrotic syndrome | 2015-10-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003223623 | SCV003919503 | likely pathogenic | not provided | 2022-10-21 | criteria provided, single submitter | clinical testing | Identified in a patient with nephrotic syndrome in published literature; additional clinical information was not provided (Nair et al., 2018); 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; In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 30293248, 17361230) |