Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000146397 | SCV000193683 | likely pathogenic | Severe X-linked myotubular myopathy | 2014-05-29 | criteria provided, single submitter | clinical testing |