Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000794804 | SCV000934234 | likely benign | Mitochondrial trifunctional protein deficiency; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001825553 | SCV002076526 | uncertain significance | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | 2020-01-22 | no assertion criteria provided | clinical testing |