Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000012743 | SCV004193969 | likely pathogenic | Pyruvate dehydrogenase E3 deficiency | 2023-03-29 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000012743 | SCV000032978 | pathogenic | Pyruvate dehydrogenase E3 deficiency | 1993-06-01 | no assertion criteria provided | literature only |