ClinVar Miner

Submissions for variant NM_021728.4(OTX2):c.270G>A (p.Val90=)

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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 RCV003530923 SCV004293376 likely benign Anophthalmia-microphthalmia syndrome 2023-02-11 criteria provided, single submitter clinical testing

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