Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
OMIM | RCV000001072 | SCV000021222 | pathogenic | Charcot-Marie-Tooth disease, type 4H | 2009-03-31 | no assertion criteria provided | literature only | |
Gene |
RCV000001072 | SCV000054707 | pathologic | Charcot-Marie-Tooth disease, type 4H | 2012-09-13 | no assertion criteria provided | curation | Converted during submission to Pathogenic. |
Inherited Neuropathy Consortium | RCV000789105 | SCV000928456 | uncertain significance | Charcot-Marie-Tooth disease | no assertion criteria provided | literature only |