ClinVar Miner

Submissions for variant NM_021728.4(OTX2):c.423C>A (p.Pro141=)

gnomAD frequency: 0.00001  dbSNP: rs372008404
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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 RCV002116246 SCV002446101 likely benign Anophthalmia-microphthalmia syndrome 2023-04-15 criteria provided, single submitter clinical testing

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