ClinVar Miner

Submissions for variant NM_021728.4(OTX2):c.297T>C (p.Ala99=)

dbSNP: rs2139529344
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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 RCV002084956 SCV002326317 likely benign Anophthalmia-microphthalmia syndrome 2021-03-31 criteria provided, single submitter clinical testing

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