Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV000415514 | SCV000680162 | pathogenic | Epileptic encephalopathy, early infantile, 50 | 2017-09-08 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000415514 | SCV000493914 | pathogenic | Epileptic encephalopathy, early infantile, 50 | 2020-11-11 | no assertion criteria provided | literature only |