ClinVar Miner

Submissions for variant NM_001368894.2(PAX6):c.-501del

dbSNP: rs886048208
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000349942 SCV000371210 uncertain significance Autosomal dominant keratitis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000397243 SCV000371211 uncertain significance Congenital aniridia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000296188 SCV000371212 uncertain significance Anophthalmia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000344079 SCV000371213 uncertain significance Irido-corneo-trabecular dysgenesis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000397808 SCV000371214 uncertain significance Foveal hypoplasia 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000310419 SCV000371215 uncertain significance Aniridia, Cerebellar Ataxia, And Intellectual Disability 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000358202 SCV000371216 uncertain significance 11p partial monosomy syndrome 2016-06-14 criteria provided, single submitter clinical testing

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