Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000712220 | SCV000241654 | uncertain significance | not provided | 2022-05-23 | criteria provided, single submitter | clinical testing | 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 |
Invitae | RCV000650017 | SCV000771854 | benign | Lipoic acid synthetase deficiency | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000712220 | SCV000842658 | uncertain significance | not provided | 2017-09-18 | criteria provided, single submitter | clinical testing |