ClinVar Miner

Submissions for variant NM_021728.4(OTX2):c.873G>C (p.Ser291=)

dbSNP: rs759833842
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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 RCV001437841 SCV001640706 likely benign Anophthalmia-microphthalmia syndrome 2023-10-03 criteria provided, single submitter clinical testing

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