Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV000256350 | SCV001440588 | likely pathogenic | Developmental and epileptic encephalopathy, 45 | 2019-01-01 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000256350 | SCV000322813 | pathogenic | Developmental and epileptic encephalopathy, 45 | 2020-11-10 | no assertion criteria provided | literature only |