ClinVar Miner

Submissions for variant NM_021728.4(OTX2):c.126C>A (p.Thr42=)

dbSNP: rs750923926
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002162269 SCV002333297 likely benign Anophthalmia-microphthalmia syndrome 2022-07-19 criteria provided, single submitter clinical testing

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