ClinVar Miner

Submissions for variant NM_003106.4(SOX2):c.758del (p.Pro253fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV004699038 SCV005200877 likely pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome 2024-06-13 criteria provided, single submitter clinical testing PVS1, PM2

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