Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Genomic and Experimental Medicine, |
RCV000492262 | SCV000323236 | other | Motor neuron disease | 2016-08-31 | criteria provided, single submitter | case-control | Loss-of-function but lacking segregation data |