Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center of Excellence for Medical Genomics, |
RCV002281652 | SCV002546537 | likely pathogenic | Severe X-linked myotubular myopathy | 2022-09-08 | no assertion criteria provided | research |