Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Juha Muilu Group; Institute for Molecular Medicine Finland |
RCV000049951 | SCV000082360 | probable-pathogenic | Neuronal ceroid lipofuscinosis 5 | no assertion criteria provided | not provided | Converted during submission to Likely pathogenic. |