Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000635088 | SCV000756466 | benign | Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV | 2024-01-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001766356 | SCV002008788 | uncertain significance | not provided | 2019-08-29 | 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 |
Prevention |
RCV003905705 | SCV004718598 | likely benign | CACNA1H-related condition | 2021-01-12 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |