ClinVar Miner

Submissions for variant NM_003106.4(SOX2):c.330C>G (p.Tyr110Ter)

dbSNP: rs2108522196
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001706841 SCV001934366 likely pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome 2020-12-09 criteria provided, single submitter clinical testing

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