Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV002269259 | SCV002552659 | uncertain significance | not provided | 2022-01-19 | criteria provided, single submitter | clinical testing | Observed in patients with Parkinson's disease in published literature (Nuytemans K et al., 2008; Trinh J et al., 2015); 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: 21885347, 26213354, 19472409, 28353276, 18973807, 24488318, 18197194) |
Gene |
RCV000032463 | SCV000056123 | not provided | Autosomal dominant Parkinson disease 8 | no assertion provided | literature only |