Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000009634 | SCV000486739 | likely pathogenic | Carnitine palmitoyl transferase 1A deficiency | 2016-07-29 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000009634 | SCV005058519 | pathogenic | Carnitine palmitoyl transferase 1A deficiency | 2024-02-29 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000009634 | SCV000029852 | pathogenic | Carnitine palmitoyl transferase 1A deficiency | 2002-08-01 | no assertion criteria provided | literature only |