Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000689507 | SCV000817161 | likely benign | Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 | 2023-06-14 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000998648 | SCV001154819 | likely benign | not provided | 2022-06-01 | criteria provided, single submitter | clinical testing | COL12A1: BP4 |
Gene |
RCV000998648 | SCV001777833 | uncertain significance | not provided | 2023-05-17 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function |