Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Rett |
RCV000170023 | SCV000222330 | pathogenic | Developmental and epileptic encephalopathy, 2 | 2014-03-13 | no assertion criteria provided | curation | Truncation causing loss of C-terminus including potential nuclear export signal, also not in 1000 genomes or ESP |