ClinVar Miner

Submissions for variant NM_003106.4(SOX2):c.936G>A (p.Leu312=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003626935 SCV004376306 likely benign Anophthalmia/microphthalmia-esophageal atresia syndrome 2023-02-25 criteria provided, single submitter clinical testing

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