Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001705043 | SCV000243073 | likely benign | not provided | 2021-04-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001522146 | SCV001731626 | benign | Early infantile epileptic encephalopathy with suppression bursts | 2023-12-30 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001808479 | SCV002056638 | benign | Developmental and epileptic encephalopathy, 5 | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003977500 | SCV004795558 | benign | SPTAN1-related condition | 2023-12-01 | 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). |