Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000705454 | SCV000834452 | likely benign | Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 | 2023-12-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001797135 | SCV002039116 | uncertain significance | not provided | 2022-02-10 | 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 does not alter protein structure/function |
Revvity Omics, |
RCV001797135 | SCV003833356 | uncertain significance | not provided | 2021-02-04 | criteria provided, single submitter | clinical testing |