Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001768729 | SCV001992598 | uncertain significance | not provided | 2019-05-10 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); In-frame duplication in a repetitive region with no known function; Has not been previously published as pathogenic or benign to our knowledge |
Labcorp Genetics |
RCV002077188 | SCV002389797 | likely benign | Rett syndrome, congenital variant | 2021-06-14 | criteria provided, single submitter | clinical testing |