Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Diagnostics Division, |
RCV000625742 | SCV000746265 | likely pathogenic | Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome | 2017-01-01 | criteria provided, single submitter | research |