Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000975693 | SCV001123582 | likely benign | Mitochondrial trifunctional protein deficiency; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | 2023-12-05 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001274352 | SCV001458395 | likely benign | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | 2020-09-16 | no assertion criteria provided | clinical testing |