ClinVar Miner

Submissions for variant NM_003106.4(SOX2):c.52_53delinsAA (p.Ser18Lys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002590076 SCV002956233 likely benign Anophthalmia/microphthalmia-esophageal atresia syndrome 2024-04-16 criteria provided, single submitter clinical testing
GeneDx RCV003228092 SCV003924533 uncertain significance not provided 2022-11-15 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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