Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Rett |
RCV000170064 | SCV000222373 | uncertain significance | Developmental and epileptic encephalopathy, 2 | 2014-03-13 | no assertion criteria provided | curation | This mutation is the deletion of c.678_691, replaced with the inversion of c.673_683; open-reading frame stays the same |