Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001478602 | SCV001682873 | likely benign | Familial acute necrotizing encephalopathy | 2023-05-23 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003946244 | SCV004773031 | likely benign | RANBP2-related condition | 2024-01-12 | 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). |