Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001364685 | SCV001560846 | likely benign | Qualitative or quantitative defects of dysferlin | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003145621 | SCV003830859 | uncertain significance | not provided | 2021-09-02 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001826032 | SCV002079822 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2020-03-13 | no assertion criteria provided | clinical testing |