ClinVar Miner

Submissions for variant NM_021728.4(OTX2):c.804G>A (p.Lys268=)

dbSNP: rs1891888606
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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 RCV002080711 SCV002380738 likely benign Anophthalmia-microphthalmia syndrome 2021-11-06 criteria provided, single submitter clinical testing

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