Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001704662 | SCV000618157 | benign | not provided | 2019-06-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000876475 | SCV001019051 | benign | Mitochondrial trifunctional protein deficiency; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001821458 | SCV002071276 | benign | not specified | 2019-10-24 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000876475 | SCV002806513 | benign | Mitochondrial trifunctional protein deficiency; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | 2021-08-05 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001704662 | SCV004138727 | benign | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | HADHA: BP4, BS1, BS2 |
Natera, |
RCV001271657 | SCV001452960 | benign | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | 2019-10-28 | no assertion criteria provided | clinical testing |