Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000393088 | SCV000466217 | uncertain significance | Pyruvate dehydrogenase complex deficiency | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000304750 | SCV000466218 | uncertain significance | Leigh syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000359444 | SCV000466219 | uncertain significance | Maple syrup urine disease | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003624411 | SCV004517476 | benign | Pyruvate dehydrogenase E3 deficiency | 2023-07-06 | criteria provided, single submitter | clinical testing |