ClinVar Miner

Submissions for variant NM_019040.5(ELP4):c.*3703_*3705del

dbSNP: rs886048189
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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 RCV000372839 SCV000370853 uncertain significance Anophthalmia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000280659 SCV000370854 uncertain significance 11p partial monosomy syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000338068 SCV000370855 uncertain significance Aniridia, Cerebellar Ataxia, And Intellectual Disability 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000402077 SCV000370856 uncertain significance Autosomal dominant keratitis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000284700 SCV000370857 uncertain significance Irido-corneo-trabecular dysgenesis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000341992 SCV000370858 uncertain significance Foveal hypoplasia 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000401024 SCV000370859 uncertain significance Congenital aniridia 2016-06-14 criteria provided, single submitter clinical testing

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