Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001764819 | SCV001989292 | uncertain significance | not provided | 2020-03-04 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Mendelics | RCV002246474 | SCV002517265 | likely pathogenic | Mucolipidosis type II | 2022-05-04 | criteria provided, single submitter | clinical testing |