Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000864900 | SCV001005780 | likely benign | Multiple acyl-CoA dehydrogenase deficiency | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002245716 | SCV002513105 | uncertain significance | not provided | 2022-05-05 | 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 |