Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000927813 | SCV001073410 | likely benign | Mitochondrial trifunctional protein deficiency; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | 2023-12-01 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001271658 | SCV001452961 | uncertain significance | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | 2020-01-17 | no assertion criteria provided | clinical testing |