Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001722096 | SCV000252260 | uncertain significance | not provided | 2022-07-29 | criteria provided, single submitter | clinical testing | 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 |
Invitae | RCV000539133 | SCV000639724 | likely benign | Biotin-responsive basal ganglia disease | 2024-01-15 | criteria provided, single submitter | clinical testing |