Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
OMIM | RCV000009635 | SCV000029853 | pathogenic | Carnitine palmitoyl transferase 1A deficiency | 2002-08-01 | no assertion criteria provided | literature only | |
Gene |
RCV000009635 | SCV000086863 | pathologic | Carnitine palmitoyl transferase 1A deficiency | 2013-03-07 | no assertion criteria provided | curation | Converted during submission to Pathogenic. |