Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000875251 | SCV001017546 | likely benign | Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 | 2023-12-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001534372 | SCV001751296 | uncertain significance | not provided | 2022-10-05 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect |