Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001514033 | SCV001721778 | benign | Severe X-linked myotubular myopathy | 2023-06-28 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003434302 | SCV004167010 | likely benign | not provided | 2022-10-01 | criteria provided, single submitter | clinical testing | MTM1: BP4, BP7 |
Natera, |
RCV001514033 | SCV002084528 | likely benign | Severe X-linked myotubular myopathy | 2020-03-13 | no assertion criteria provided | clinical testing |