Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Medical Genetics, |
RCV003314500 | SCV004013936 | likely pathogenic | Severe X-linked myotubular myopathy | 2023-07-03 | criteria provided, single submitter | clinical testing | PM2, PP3, PP4 |