Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001418821 | SCV001621060 | likely benign | Qualitative or quantitative defects of dysferlin | 2024-01-12 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001831465 | SCV002080364 | likely benign | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2021-08-16 | no assertion criteria provided | clinical testing |