Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Greenwood Genetic Center Diagnostic Laboratories, |
RCV004555086 | SCV005043972 | likely pathogenic | Combined oxidative phosphorylation deficiency 51 | 2024-01-09 | criteria provided, single submitter | clinical testing | PVS1, PM2 |