Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene Discovery Core- |
RCV000225081 | SCV000267646 | pathogenic | Juvenile onset psychosis | 2016-04-11 | criteria provided, single submitter | research | de novo |
Gene |
RCV002282097 | SCV002571546 | likely pathogenic | not provided | 2022-09-02 | criteria provided, single submitter | clinical testing | Reported previously as a de novo variant in a patient with neonatal hypotonia, pervasive developmental disorder, episodes of stiffness when sleeping, severe-injurious behaviors, and childhood-onset schizophrenia (Smedemark-Margulies et al., 2016); Not observed 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: 27626066) |
Greenwood Genetic Center Diagnostic Laboratories, |
RCV003114440 | SCV003799075 | likely pathogenic | Alternating hemiplegia of childhood 2 | 2022-12-20 | criteria provided, single submitter | clinical testing | PS2, PM2, PP2, PP3 |
Gene |
RCV002274003 | SCV002559230 | not provided | Dystonia 12 | no assertion provided | literature only |