ClinVar Miner

Submissions for variant NM_021728.4(OTX2):c.579T>C (p.Tyr193=)

dbSNP: rs2139528485
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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 RCV001478946 SCV001683226 likely benign Anophthalmia-microphthalmia syndrome 2022-02-03 criteria provided, single submitter clinical testing

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