Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001441263 | SCV001644187 | likely benign | Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV | 2022-11-08 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002488249 | SCV002800548 | likely benign | Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV | 2021-12-23 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004533739 | SCV004755065 | likely benign | CACNA1H-related disorder | 2019-06-23 | 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). |