ClinVar Miner

Submissions for variant NM_003106.4(SOX2):c.561T>C (p.Asn187=)

gnomAD frequency: 0.00028  dbSNP: rs147606682
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001564454 SCV001787626 likely benign not provided 2020-10-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002568432 SCV003245976 likely benign Anophthalmia/microphthalmia-esophageal atresia syndrome 2023-04-06 criteria provided, single submitter clinical testing

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