Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000690013 | SCV000817689 | likely benign | Qualitative or quantitative defects of dysferlin | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000997160 | SCV001152336 | uncertain significance | not provided | 2019-05-01 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000997160 | SCV003829654 | uncertain significance | not provided | 2019-12-19 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001825341 | SCV002079856 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2019-10-28 | no assertion criteria provided | clinical testing |