Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Lupski Lab, |
RCV000235064 | SCV000292344 | pathogenic | Charcot-Marie-Tooth disease type 1B | 2015-08-18 | criteria provided, single submitter | research | This variant has been previously reported as disease-causing and was found in a male with demyelinating neuropathy. |
Inherited Neuropathy Consortium | RCV000789436 | SCV000928791 | uncertain significance | Charcot-Marie-Tooth disease | no assertion criteria provided | literature only |