Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000146474 | SCV000193763 | likely pathogenic | Severe X-linked myotubular myopathy | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Clinical Molecular Genetics Laboratory, |
RCV000146474 | SCV000920406 | pathogenic | Severe X-linked myotubular myopathy | 2009-10-15 | no assertion criteria provided | clinical testing |