ClinVar Miner

Submissions for variant NM_001368894.2(PAX6):c.256G>C (p.Gly86Arg)

dbSNP: rs759557055
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wessex Regional Genetics Laboratory, Salisbury District Hospital RCV000984386 SCV001055737 likely pathogenic Foveal hypoplasia 1 2019-08-15 criteria provided, single submitter clinical testing

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