ClinVar Miner

Submissions for variant NM_003106.4(SOX2):c.555C>A (p.Gly185=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003042788 SCV003334013 likely benign Anophthalmia/microphthalmia-esophageal atresia syndrome 2022-04-30 criteria provided, single submitter clinical testing

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