Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV000626564 | SCV000747265 | likely pathogenic | Seizure; Memory impairment; Gait ataxia; Spastic paraplegia | 2017-01-01 | criteria provided, single submitter | clinical testing |