Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001039223 | SCV001202741 | likely benign | Qualitative or quantitative defects of dysferlin | 2023-11-05 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV000393155 | SCV000346029 | uncertain significance | not specified | no assertion criteria provided | clinical testing | ||
Natera, |
RCV001276450 | SCV001462797 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2020-09-16 | no assertion criteria provided | clinical testing |