Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000635145 | SCV000756523 | benign | Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV | 2023-12-05 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002507074 | SCV002798089 | likely benign | Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV | 2022-02-16 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003392476 | SCV004133667 | benign | not provided | 2022-07-01 | criteria provided, single submitter | clinical testing | CACNA1H: BS1, BS2 |
Prevention |
RCV003935777 | SCV004760661 | likely benign | CACNA1H-related condition | 2019-04-03 | 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). |