Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001034065 | SCV001197390 | likely benign | Early infantile epileptic encephalopathy with suppression bursts | 2023-10-23 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003910143 | SCV004727651 | likely benign | SCN8A-related condition | 2022-11-22 | 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). |