ClinVar Miner

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

dbSNP: rs759557055
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Total submissions: 2
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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
Institute of Immunology and Genetics Kaiserslautern RCV004669181 SCV005093848 likely pathogenic Aniridia 1; Foveal hypoplasia 1; Isolated optic nerve hypoplasia; Irido-corneo-trabecular dysgenesis; 11p partial monosomy syndrome; Coloboma, ocular, autosomal dominant 2024-07-22 criteria provided, single submitter clinical testing ACMG Criteria: PM1, PM5, PM2_P, PP1, PP3, PP5; Variant was found in heterozygous state

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