Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000145530 | SCV000192619 | pathogenic | Developmental and epileptic encephalopathy, 2 | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Neuro |
RCV000145530 | SCV000693780 | likely pathogenic | Developmental and epileptic encephalopathy, 2 | 2018-01-01 | criteria provided, single submitter | clinical testing | |
Rett |
RCV000145530 | SCV000188362 | pathogenic | Developmental and epileptic encephalopathy, 2 | 2014-03-13 | no assertion criteria provided | curation | Truncation causing loss of nuclear export signal |