Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
OMIM | RCV000722135 | SCV000853310 | pathogenic | Developmental and epileptic encephalopathy, 68 | 2020-11-18 | no assertion criteria provided | literature only | |
Biochemical Molecular Genetic Laboratory, |
RCV000722135 | SCV001190748 | likely pathogenic | Developmental and epileptic encephalopathy, 68 | 2020-02-05 | no assertion criteria provided | clinical testing | |
Department Of Translational Genomics |
RCV000722135 | SCV001870534 | pathogenic | Developmental and epileptic encephalopathy, 68 | 2021-04-29 | no assertion criteria provided | research |