Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000950327 | SCV001096626 | benign | Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV | 2023-12-06 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003960612 | SCV004769058 | benign | CACNA1H-related condition | 2019-12-06 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |