Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000550765 | SCV000649627 | benign | Qualitative or quantitative defects of dysferlin | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001558981 | SCV001781034 | uncertain significance | not provided | 2019-10-28 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek et al., 2016); 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, |
RCV001558981 | SCV003830914 | uncertain significance | not provided | 2020-03-04 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001274454 | SCV001458655 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2020-09-16 | no assertion criteria provided | clinical testing |