Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ege University Pediatric Genetics, |
RCV000790375 | SCV000925612 | likely pathogenic | Neuronal ceroid lipofuscinosis 5 | 2019-05-15 | criteria provided, single submitter | clinical testing |