Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001080756 | SCV001020701 | benign | Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000877892 | SCV001143479 | benign | not provided | 2018-11-20 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002501350 | SCV002807920 | likely benign | Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV | 2021-10-01 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000877892 | SCV004133658 | likely benign | not provided | 2023-04-01 | criteria provided, single submitter | clinical testing | CACNA1H: BP4, BP7 |
Prevention |
RCV003948262 | SCV004773861 | likely benign | CACNA1H-related condition | 2021-05-13 | 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). |