Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000532656 | SCV000632125 | benign | Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003392371 | SCV004133643 | benign | not provided | 2022-05-01 | criteria provided, single submitter | clinical testing | CACNA1H: BS1, BS2 |
Prevention |
RCV003942763 | SCV004762558 | likely benign | CACNA1H-related condition | 2019-11-12 | 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). |