ClinVar Miner

Submissions for variant NM_019040.5(ELP4):c.*3164_*3165insAAAA

dbSNP: rs34919147
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000392047 SCV000370776 benign Aniridia, Cerebellar Ataxia, And Intellectual Disability 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000299243 SCV000370777 benign Foveal hypoplasia 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000358681 SCV000370778 benign Autosomal dominant keratitis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000392032 SCV000370779 benign Anophthalmia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000305344 SCV000370780 benign Congenital aniridia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000359957 SCV000370781 benign 11p partial monosomy syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000270087 SCV000370782 benign Irido-corneo-trabecular dysgenesis 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001538955 SCV001756676 benign not provided 2021-05-13 criteria provided, single submitter clinical testing

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