Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001418904 | SCV001621147 | likely benign | Qualitative or quantitative defects of dysferlin | 2023-11-19 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001836398 | SCV002079746 | likely benign | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2021-08-19 | no assertion criteria provided | clinical testing |