Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Genomic Medicine, |
RCV003990455 | SCV004807117 | likely pathogenic | Carnitine palmitoyl transferase 1A deficiency | 2024-03-26 | criteria provided, single submitter | clinical testing |