Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000988248 | SCV001137899 | likely pathogenic | Developmental and epileptic encephalopathy, 4 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Pediatric Genetics Clinic, |
RCV000988248 | SCV001712232 | pathogenic | Developmental and epileptic encephalopathy, 4 | 2021-05-13 | no assertion criteria provided | clinical testing |