Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001704751 | SCV000719652 | likely benign | not provided | 2018-08-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000900095 | SCV001044398 | likely benign | Carnitine palmitoyl transferase 1A deficiency | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001704751 | SCV004811189 | likely benign | not provided | 2024-03-01 | criteria provided, single submitter | clinical testing | CPT1A: BP4, BP7 |