ClinVar Miner

Submissions for variant NM_001368894.2(PAX6):c.*183dup

dbSNP: rs886048200
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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 RCV000401821 SCV000371091 uncertain significance Autosomal dominant keratitis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000303579 SCV000371092 uncertain significance Aniridia, Cerebellar Ataxia, And Intellectual Disability 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000358490 SCV000371093 uncertain significance Anophthalmia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000268454 SCV000371094 uncertain significance Foveal hypoplasia 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000304643 SCV000371095 uncertain significance Irido-corneo-trabecular dysgenesis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000354831 SCV000371096 uncertain significance Congenital aniridia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000259852 SCV000371097 uncertain significance 11p partial monosomy syndrome 2016-06-14 criteria provided, single submitter clinical testing

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