Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics Munich, |
RCV002468779 | SCV002764866 | likely pathogenic | Astigmatism; Hamartoma of hypothalamus; Global developmental delay; Nystagmus; Hypermetropia; Opsoclonus | 2020-08-28 | criteria provided, single submitter | clinical testing |