Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000549739 | SCV000632075 | likely benign | Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001764549 | SCV002007876 | likely benign | not provided | 2021-04-28 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003925610 | SCV004738339 | benign | CACNA1H-related condition | 2019-09-20 | 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). |