Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department of Human Genetics, |
RCV003224768 | SCV003920651 | likely pathogenic | Severe X-linked myotubular myopathy | 2023-04-28 | criteria provided, single submitter | clinical testing |