Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001091315 | SCV001247270 | pathogenic | not provided | 2018-08-01 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV001542509 | SCV002518776 | pathogenic | Pyruvate dehydrogenase E1-alpha deficiency | 2022-05-04 | criteria provided, single submitter | clinical testing | |
Genomics England Pilot Project, |
RCV001542509 | SCV001760508 | pathogenic | Pyruvate dehydrogenase E1-alpha deficiency | no assertion criteria provided | clinical testing |