Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000560774 | SCV000636277 | benign | Severe myoclonic epilepsy in infancy | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003905376 | SCV004720107 | benign | SNX27-related condition | 2019-04-17 | 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). |