ClinVar Miner

Submissions for variant NM_003106.4(SOX2):c.497G>A (p.Trp166Ter)

dbSNP: rs2108522646
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001884077 SCV002153760 pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome 2021-08-28 criteria provided, single submitter clinical testing

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