ClinVar Miner

Submissions for variant NM_019040.5(ELP4):c.*2673_*2674del

gnomAD frequency: 0.02792  dbSNP: rs141022497
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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 RCV000283615 SCV000370748 benign Foveal hypoplasia 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000324796 SCV000370749 benign Anophthalmia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000379301 SCV000370750 benign Irido-corneo-trabecular dysgenesis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000288752 SCV000370751 benign Autosomal dominant keratitis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000343770 SCV000370752 benign Congenital aniridia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000391691 SCV000370753 benign 11p partial monosomy syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000289781 SCV000370754 benign Aniridia, Cerebellar Ataxia, And Intellectual Disability 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001539679 SCV001757479 benign not provided 2021-05-14 criteria provided, single submitter clinical testing

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