ClinVar Miner

Submissions for variant NM_003106.4(SOX2):c.498G>A (p.Trp166Ter)

dbSNP: rs2108522652
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Lab, University of California San Francisco RCV001375935 SCV001572918 pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome 2020-02-20 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001543454 SCV001762031 pathogenic not provided 2021-06-17 criteria provided, single submitter clinical testing

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