Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000245895 | SCV000310294 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV001511463 | SCV001718711 | benign | Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001540056 | SCV001757893 | benign | not provided | 2018-07-09 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 16741161) |
Genome- |
RCV001582861 | SCV001821736 | benign | Ullrich congenital muscular dystrophy 2 | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001582862 | SCV001821737 | benign | Bethlem myopathy 2 | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV000245895 | SCV001807679 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000245895 | SCV001919443 | benign | not specified | no assertion criteria provided | clinical testing |