Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000535272 | SCV000632191 | benign | Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002483389 | SCV002796835 | likely benign | Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV | 2021-10-14 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003392375 | SCV004133664 | benign | not provided | 2022-09-01 | criteria provided, single submitter | clinical testing | CACNA1H: BS1, BS2 |
Prevention |
RCV003915512 | SCV004733593 | likely benign | CACNA1H-related condition | 2019-10-11 | 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). |