Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001055723 | SCV001220127 | likely benign | Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 | 2023-09-21 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003145307 | SCV003831230 | uncertain significance | not provided | 2019-06-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003145307 | SCV004039662 | uncertain significance | not provided | 2023-09-25 | 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 |