ClinVar Miner

Submissions for variant NM_003106.4(SOX2):c.943_944del (p.Ser315fs)

dbSNP: rs1714883683
Minimum review status: Collection method:
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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 RCV001267870 SCV001446356 pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome no assertion criteria provided clinical testing Patient has symptoms similar to SOX2 related disease and is suspected to be pathogenic

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