ClinVar Miner

Submissions for variant NM_021728.4(OTX2):c.426C>A (p.Pro142=)

dbSNP: rs553884027
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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 RCV002175779 SCV002479840 likely benign Anophthalmia-microphthalmia syndrome 2020-12-03 criteria provided, single submitter clinical testing

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