Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000797248 | SCV000936797 | likely benign | Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 | 2023-12-02 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001558174 | SCV001780066 | uncertain significance | not provided | 2022-03-23 | 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, |
RCV001558174 | SCV003833288 | uncertain significance | not provided | 2021-10-27 | criteria provided, single submitter | clinical testing |