ClinVar Miner

Submissions for variant NM_003106.4(SOX2):c.241del (p.Leu81fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002289371 SCV002580190 likely pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome 2022-07-22 criteria provided, single submitter clinical testing

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