Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001764761 | SCV001989218 | uncertain significance | not provided | 2020-03-10 | 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 does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Fulgent Genetics, |
RCV002488524 | SCV002789010 | uncertain significance | MASA syndrome; X-linked complicated corpus callosum dysgenesis; X-linked hydrocephalus syndrome | 2022-04-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003750871 | SCV004554232 | likely benign | Spastic paraplegia | 2023-11-22 | criteria provided, single submitter | clinical testing |