Submitter |
RCV |
SCV |
Clinical significance |
Condition |
Last evaluated |
Review status |
Method |
Comment |
Laboratoire de Genetique Biologique, CHU de Poitiers |
RCV000770777 |
SCV000899279 |
likely pathogenic |
CHARGE association |
2019-04-30 |
criteria provided, single submitter |
clinical testing |
Family history of CHARGE syndrome. Variation found on each affected patients. |
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