Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000504277 | SCV000594983 | likely pathogenic | Hypomyelinating leukodystrophy 2 | 2017-01-06 | criteria provided, single submitter | clinical testing |