Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV003468329 | SCV004191829 | pathogenic | Mitochondrial trifunctional protein deficiency | 2023-06-13 | criteria provided, single submitter | clinical testing | |
Center for Genomic Medicine, |
RCV003988118 | SCV004804677 | likely pathogenic | Mitochondrial trifunctional protein deficiency 2 | 2024-03-17 | criteria provided, single submitter | research |