Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000533199 | SCV000649740 | likely benign | Qualitative or quantitative defects of dysferlin | 2023-12-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001755866 | SCV001997329 | uncertain significance | not provided | 2020-01-02 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge |
Revvity Omics, |
RCV001755866 | SCV003831248 | uncertain significance | not provided | 2020-11-16 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001834801 | SCV002080359 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2019-10-28 | no assertion criteria provided | clinical testing |