Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000899453 | SCV001043723 | likely benign | Mitochondrial trifunctional protein deficiency; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000899453 | SCV002808229 | likely benign | Mitochondrial trifunctional protein deficiency; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | 2022-02-04 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001271666 | SCV001452969 | uncertain significance | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | 2020-01-17 | no assertion criteria provided | clinical testing |