Submitter |
RCV |
SCV |
Clinical significance |
Condition |
Last evaluated |
Review status |
Method |
Comment |
Institute of Human Genetics, Cologne University |
RCV000790424 |
SCV000925749 |
pathogenic |
Charcot-Marie-Tooth disease type 4C |
|
no assertion criteria provided |
clinical testing |
This was found in homozygous state in a child of consanguineous parents. |
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