Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001246276 | SCV001419619 | likely benign | Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 | 2023-11-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001760284 | SCV002008781 | uncertain significance | not provided | 2022-12-19 | 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 has a deleterious effect on protein structure/function |
Revvity Omics, |
RCV001760284 | SCV003833391 | uncertain significance | not provided | 2019-10-18 | criteria provided, single submitter | clinical testing |