Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001068212 | SCV001233309 | likely benign | Qualitative or quantitative defects of dysferlin | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001274851 | SCV001459368 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2020-03-10 | no assertion criteria provided | clinical testing |