Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001244179 | SCV001417382 | likely benign | Qualitative or quantitative defects of dysferlin | 2023-09-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001760277 | SCV001998282 | uncertain significance | not provided | 2020-10-16 | 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 |
Revvity Omics, |
RCV001760277 | SCV003830895 | uncertain significance | not provided | 2019-04-05 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001829922 | SCV002079838 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2020-07-09 | no assertion criteria provided | clinical testing |