Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001394458 | SCV001596143 | likely benign | Carnitine palmitoyltransferase II deficiency | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002488215 | SCV002799233 | likely benign | Carnitine palmitoyl transferase II deficiency, severe infantile form; Carnitine palmitoyl transferase II deficiency, myopathic form; Carnitine palmitoyl transferase II deficiency, neonatal form; Encephalopathy, acute, infection-induced, susceptibility to, 4 | 2021-12-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003451703 | SCV004179468 | likely benign | Encephalopathy, acute, infection-induced, susceptibility to, 4 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003451700 | SCV004179469 | likely benign | Carnitine palmitoyl transferase II deficiency, severe infantile form | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003451702 | SCV004179470 | likely benign | Carnitine palmitoyl transferase II deficiency, neonatal form | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003451701 | SCV004179471 | likely benign | Carnitine palmitoyl transferase II deficiency, myopathic form | 2023-04-11 | criteria provided, single submitter | clinical testing |