ClinVar Miner

Submissions for variant NM_021728.4(OTX2):c.867A>T (p.Thr289=)

dbSNP: rs2139527552
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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 RCV001488723 SCV001693246 likely benign Anophthalmia-microphthalmia syndrome 2020-06-30 criteria provided, single submitter clinical testing

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