ClinVar Miner

Submissions for variant NM_021728.4(OTX2):c.453C>T (p.Ala151=)

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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 RCV003646888 SCV004509970 likely benign Anophthalmia-microphthalmia syndrome 2023-10-15 criteria provided, single submitter clinical testing

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