Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000411274 | SCV000487691 | likely pathogenic | Carnitine palmitoyl transferase II deficiency, myopathic form | 2016-08-09 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000409314 | SCV000487692 | likely pathogenic | Carnitine palmitoyl transferase II deficiency, severe infantile form | 2016-08-09 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000410441 | SCV000487693 | likely pathogenic | Carnitine palmitoyl transferase II deficiency, neonatal form | 2016-08-09 | criteria provided, single submitter | clinical testing |