Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000819139 | SCV000959783 | benign | Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 | 2023-12-13 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003432779 | SCV004159765 | likely benign | not provided | 2023-05-01 | criteria provided, single submitter | clinical testing | COL12A1: BP4 |