Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department of Pediatrics, |
RCV000002972 | SCV000966030 | pathogenic | Deficiency of acetyl-CoA acetyltransferase | 2019-05-05 | criteria provided, single submitter | research | |
OMIM | RCV000002972 | SCV000023130 | pathogenic | Deficiency of acetyl-CoA acetyltransferase | 1993-01-01 | no assertion criteria provided | literature only |