Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Diagnostics Laboratory, |
RCV000991311 | SCV001142716 | likely pathogenic | Congenital sensory neuropathy with selective loss of small myelinated fibers | 2019-06-20 | criteria provided, single submitter | clinical testing |