Submitter |
RCV |
SCV |
Clinical significance |
Condition |
Last evaluated |
Review status |
Method |
Comment |
Paul Sabatier University EA-4555, Paul Sabatier University |
RCV000207370 |
SCV000259171 |
likely pathogenic |
Anophthalmia-microphthalmia syndrome |
2013-01-01 |
criteria provided, single submitter |
clinical testing |
rare variant, functional studies demonstrating is deleterious effect on protein. |
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