Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Rett |
RCV000169984 | SCV000222289 | likely pathogenic | Developmental and epileptic encephalopathy, 2 | 2014-03-13 | no assertion criteria provided | curation | Effect on transcription and translation uncertain, but predicted to abolish transcription of allele |