Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Anophthalmia/Microphthalmia Research Registry, |
RCV001267856 | SCV001446342 | uncertain significance | Anophthalmia/microphthalmia-esophageal atresia syndrome | no assertion criteria provided | research | Patient has symptoms similar to SOX2 related disease. However, similarly affected fetus did not have the same mutation |