Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Inherited Metabolic Diseases, |
RCV003444105 | SCV004171205 | pathogenic | Developmental and epileptic encephalopathy, 2 | 2023-11-29 | criteria provided, single submitter | clinical testing | |
Rett |
RCV000170038 | SCV000222346 | pathogenic | Atypical Rett syndrome | 2014-03-13 | no assertion criteria provided | curation | Disrupts splice site but effect on transcript uncertain |