Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001224156 | SCV001396339 | likely benign | Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 | 2023-10-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002511060 | SCV002820809 | uncertain significance | not provided | 2023-05-08 | 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 |