Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001754082 | SCV001987052 | likely pathogenic | not provided | 2022-02-06 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Not observed at a significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 22571692) |
Genome Diagnostics Laboratory, |
RCV001847324 | SCV002105864 | uncertain significance | Hereditary spastic paraplegia | 2019-07-12 | criteria provided, single submitter | clinical testing |