ClinVar Miner

Submissions for variant NM_019040.5(ELP4):c.*4023C>A

gnomAD frequency: 0.00001  dbSNP: rs886048194
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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 RCV000304054 SCV000370923 uncertain significance Congenital aniridia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000358876 SCV000370924 uncertain significance Foveal hypoplasia 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000391332 SCV000370925 uncertain significance Autosomal dominant keratitis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000300661 SCV000370926 uncertain significance Anophthalmia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000354896 SCV000370927 uncertain significance 11p partial monosomy syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000260069 SCV000370928 uncertain significance Irido-corneo-trabecular dysgenesis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000333867 SCV000370929 uncertain significance Aniridia, Cerebellar Ataxia, And Intellectual Disability 2016-06-14 criteria provided, single submitter clinical testing

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