Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000635080 | SCV000756458 | benign | Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV | 2024-01-07 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003928066 | SCV004743091 | benign | CACNA1H-related condition | 2019-04-23 | 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). |