ClinVar Miner

Submissions for variant NM_019040.5(ELP4):c.*3514_*3517dup (rs397795797)

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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 RCV000330541 SCV000370832 benign Congenital aniridia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000387389 SCV000370833 benign Aniridia, Cerebellar Ataxia, And Intellectual Disability 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000295258 SCV000370834 benign Keratitis, hereditary 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000352420 SCV000370835 benign Anophthalmia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000401427 SCV000370836 benign Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000279797 SCV000370837 benign Foveal hypoplasia and presenile cataract syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000337230 SCV000370838 benign Irido-corneo-trabecular dysgenesis 2016-06-14 criteria provided, single submitter clinical testing

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