Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001504969 | SCV001709857 | likely benign | Pyruvate dehydrogenase E1-beta deficiency | 2023-11-20 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001280187 | SCV001467347 | uncertain significance | Pyruvate dehydrogenase complex deficiency | 2020-11-09 | no assertion criteria provided | clinical testing |