Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002547241 | SCV001100489 | likely benign | Bethlem myopathy 1 | 2023-10-11 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003438627 | SCV004147342 | likely benign | not provided | 2022-08-01 | criteria provided, single submitter | clinical testing | COL6A3: BP4, BP7 |