Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000523223 | SCV000618743 | uncertain significance | not provided | 2019-07-25 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV002527605 | SCV003520165 | likely benign | Qualitative or quantitative defects of dysferlin | 2023-11-05 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001829489 | SCV002079857 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2019-10-28 | no assertion criteria provided | clinical testing |