Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000675130 | SCV000800705 | uncertain significance | Carnitine palmitoyl transferase II deficiency, severe infantile form | 2018-05-10 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000009513 | SCV000029731 | pathogenic | Carnitine palmitoyl transferase II deficiency, myopathic form | 1995-01-01 | no assertion criteria provided | literature only |