Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute Of Human Genetics Munich, |
RCV000415584 | SCV000680161 | likely pathogenic | Developmental and epileptic encephalopathy, 50 | 2017-09-08 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000415584 | SCV000493913 | pathogenic | Developmental and epileptic encephalopathy, 50 | 2020-11-11 | no assertion criteria provided | literature only |