ClinVar Miner

Submissions for variant NM_021728.4(OTX2):c.543G>A (p.Arg181=)

dbSNP: rs1184804231
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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 RCV001476113 SCV001680317 likely benign Anophthalmia-microphthalmia syndrome 2022-08-16 criteria provided, single submitter clinical testing

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