Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000878270 | SCV001021147 | likely benign | Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001796299 | SCV002032433 | likely benign | not provided | 2021-06-08 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 27535533, 26582918) |