Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001203584 | SCV001374757 | likely benign | Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 | 2023-08-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001751375 | SCV002007756 | uncertain significance | not provided | 2020-02-19 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Revvity Omics, |
RCV001751375 | SCV004235374 | uncertain significance | not provided | 2023-03-15 | criteria provided, single submitter | clinical testing |