Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Fulgent Genetics, |
RCV005048370 | SCV005682227 | likely pathogenic | GNE myopathy; Sialuria; Thrombocytopenia 12 with or without myopathy | 2024-06-02 | criteria provided, single submitter | clinical testing |