Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001574456 | SCV001801276 | uncertain significance | not provided | 2020-02-03 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Center for Pediatrics and Adolescent Medicine, |
RCV001803371 | SCV002047683 | likely pathogenic | Tubulinopathy-associated dysgyria | 2021-11-01 | criteria provided, single submitter | research |