Submitter |
RCV |
SCV |
Clinical significance |
Condition |
Last evaluated |
Review status |
Method |
Comment |
Centre for Mendelian Genomics, University Medical Centre Ljubljana |
RCV000626986 |
SCV000747689 |
likely pathogenic |
Hypertelorism; Telecanthus; Megalocornea; Abnormal facial shape; Myopia; Short nose; Hypoplasia of the maxilla; Cleft palate |
2017-01-01 |
criteria provided, single submitter |
clinical testing |
|
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