ClinVar Miner

Submissions for variant NM_019040.5(ELP4):c.*3164_*3165insAAAA (rs34919147)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000392047 SCV000370776 benign Aniridia, Cerebellar Ataxia, And Intellectual Disability 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000299243 SCV000370777 benign Foveal hypoplasia and presenile cataract syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000358681 SCV000370778 benign Keratitis, hereditary 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000392032 SCV000370779 benign Anophthalmia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000305344 SCV000370780 benign Congenital aniridia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000359957 SCV000370781 benign Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000270087 SCV000370782 benign Irido-corneo-trabecular dysgenesis 2016-06-14 criteria provided, single submitter clinical testing

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