ClinVar Miner

Submissions for variant NM_021728.4(OTX2):c.597C>G (p.Gly199=)

dbSNP: rs775913832
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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 RCV002201534 SCV002493604 likely benign Anophthalmia-microphthalmia syndrome 2023-05-23 criteria provided, single submitter clinical testing

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