ClinVar Miner

Submissions for variant NM_001368894.2(PAX6):c.535G>T (p.Gly179Trp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004797354 SCV005416800 uncertain significance Aniridia 1; Foveal hypoplasia 1; Coloboma of optic nerve; Autosomal dominant keratitis; Isolated optic nerve hypoplasia; Irido-corneo-trabecular dysgenesis; Coloboma, ocular, autosomal dominant criteria provided, single submitter clinical testing PM2_Supporting+PP3_Moderate+PP2

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