Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000705846 | SCV000834863 | benign | Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001766560 | SCV002008812 | uncertain significance | not provided | 2020-07-02 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Fulgent Genetics, |
RCV002477630 | SCV002776741 | uncertain significance | Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV | 2021-07-03 | criteria provided, single submitter | clinical testing |