Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Section on Translational Neuroscience, |
RCV000128526 | SCV000172169 | likely benign | Menkes kinky-hair syndrome | no assertion criteria provided | clinical testing | The variant was identified prenatally and suggested risk for Menkes disease, which did not however develop. |