ClinVar Miner

Submissions for variant NM_003106.4(SOX2):c.840C>G (p.Gly280=)

gnomAD frequency: 0.00006  dbSNP: rs767686608
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001558767 SCV001780781 likely benign not provided 2020-06-19 criteria provided, single submitter clinical testing
Invitae RCV002568380 SCV003231409 likely benign Anophthalmia/microphthalmia-esophageal atresia syndrome 2022-08-19 criteria provided, single submitter clinical testing

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