Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001200083 | SCV001370947 | pathogenic | not provided | 2020-06-01 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV000239728 | SCV001428930 | pathogenic | Developmental and epileptic encephalopathy, 13 | 2017-10-14 | criteria provided, single submitter | clinical testing | This variant was identified as de novo |
Gene |
RCV000239728 | SCV000298192 | not provided | Developmental and epileptic encephalopathy, 13 | no assertion provided | literature only |