Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000555957 | SCV000639617 | likely benign | Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 | 2023-12-06 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003437254 | SCV004147133 | likely benign | not provided | 2023-08-01 | criteria provided, single submitter | clinical testing | SCN2A: BP4, BP7 |
Prevention |
RCV003985379 | SCV004765802 | likely benign | SCN2A-related disorder | 2019-11-26 | 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). |