Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Inherited Metabolic Diseases, |
RCV001374418 | SCV001571378 | likely pathogenic | Developmental and epileptic encephalopathy 94 | 2021-04-13 | criteria provided, single submitter | clinical testing |