Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001767779 | SCV001999573 | uncertain significance | not provided | 2019-11-18 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Fulgent Genetics, |
RCV002506781 | SCV002815077 | uncertain significance | MASA syndrome; X-linked complicated corpus callosum dysgenesis; X-linked hydrocephalus syndrome | 2022-05-18 | criteria provided, single submitter | clinical testing |