Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Medical Genetics and Applied Genomics, |
RCV002310599 | SCV002604942 | pathogenic | Severe intellectual disability-progressive spastic diplegia syndrome | 2022-11-18 | criteria provided, single submitter | clinical testing |