ClinVar Miner

Submissions for variant NM_003106.4(SOX2):c.58GGC[5] (p.Gly23dup)

dbSNP: rs1560264163
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Anophthalmia/Microphthalmia Research Registry, Einstein Medical Center Philadelphia 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

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