Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000049592 | SCV004204167 | pathogenic | Neuronal ceroid lipofuscinosis 1 | 2022-07-26 | criteria provided, single submitter | clinical testing | |
Juha Muilu Group; Institute for Molecular Medicine Finland |
RCV000049592 | SCV000081999 | probable-pathogenic | Neuronal ceroid lipofuscinosis 1 | no assertion criteria provided | not provided | Converted during submission to Likely pathogenic. |