Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000055870 | SCV004216823 | likely pathogenic | Carnitine palmitoyl transferase 1A deficiency | 2023-08-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000055870 | SCV000086873 | not provided | Carnitine palmitoyl transferase 1A deficiency | no assertion provided | literature only |