Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000989152 | SCV001139368 | pathogenic | Neuronal ceroid lipofuscinosis | 2019-05-28 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000002675 | SCV000022833 | pathogenic | Neuronal ceroid lipofuscinosis 5 | 1998-07-01 | no assertion criteria provided | literature only |