Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
CMT Laboratory, |
RCV001353157 | SCV001548317 | pathogenic | Autosomal recessive axonal neuropathy with neuromyotonia | 2020-12-01 | criteria provided, single submitter | clinical testing | |
Inherited Neuropathy Consortium | RCV000789326 | SCV000928679 | uncertain significance | Charcot-Marie-Tooth disease | no assertion criteria provided | literature only |