Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000890949 | SCV001034731 | benign | Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV | 2024-01-03 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002487953 | SCV002802668 | likely benign | Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV | 2021-08-19 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003392680 | SCV004133670 | likely benign | not provided | 2023-03-01 | criteria provided, single submitter | clinical testing | CACNA1H: BP4, BP7 |
Prevention |
RCV003957948 | SCV004780900 | likely benign | CACNA1H-related condition | 2021-11-01 | 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). |