ClinVar Miner

Submissions for variant NM_019040.5(ELP4):c.*2452C>T (rs3026401)

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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 RCV000307913 SCV000370720 benign Congenital aniridia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000362607 SCV000370721 benign Irido-corneo-trabecular dysgenesis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000272675 SCV000370722 benign Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000327646 SCV000370723 benign Foveal hypoplasia and presenile cataract syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000386873 SCV000370724 benign Anophthalmia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000273772 SCV000370725 benign Keratitis, hereditary 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000333466 SCV000370726 benign Aniridia, Cerebellar Ataxia, And Intellectual Disability 2016-06-14 criteria provided, single submitter clinical testing

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