Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000926633 | SCV001072196 | likely benign | not provided | 2024-01-09 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000926633 | SCV001790448 | uncertain significance | not provided | 2020-01-31 | 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 |
Natera, |
RCV001272326 | SCV001454201 | likely benign | Mitochondrial neurogastrointestinal encephalomyopathy | 2020-04-30 | no assertion criteria provided | clinical testing |