Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000409552 | SCV000487661 | likely pathogenic | Carnitine palmitoyl transferase II deficiency, myopathic form | 2016-07-18 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000411079 | SCV000487662 | likely pathogenic | Carnitine palmitoyl transferase II deficiency, severe infantile form | 2016-07-18 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000412110 | SCV000487663 | likely pathogenic | Carnitine palmitoyl transferase II deficiency, neonatal form | 2016-07-18 | criteria provided, single submitter | clinical testing |