Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000540783 | SCV000632203 | likely benign | Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV | 2023-12-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003441922 | SCV004168183 | uncertain significance | not provided | 2023-04-17 | criteria provided, single submitter | clinical testing | 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 |