Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002068655 | SCV002494909 | likely benign | Bethlem myopathy 1 | 2023-11-23 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003432896 | SCV004147363 | likely benign | not provided | 2023-05-01 | criteria provided, single submitter | clinical testing | COL6A3: BP4, BP7 |