ClinVar Miner

Variants in gene EPHA2

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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
13 6 173 88 97 341

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Cataract 6 multiple types 10 3 84 51 72 209
not provided 2 1 27 27 63 114
Inborn genetic diseases 1 0 67 1 0 69
EPHA2-related disorder 0 2 9 19 7 37
not specified 0 0 3 0 13 16
Age-related cortical cataract 0 0 3 1 0 4
Meniere disease 0 0 3 0 0 3
Cataract 6, age-related cortical 1 0 0 0 0 1
Cataract; Bilateral microphthalmos; Congenital aniridia 1 0 0 0 0 1
Developmental cataract 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 6 1 44 42 48 141
Illumina Laboratory Services, Illumina 0 0 34 13 61 108
GeneDx 1 0 21 20 44 86
Ambry Genetics 1 0 67 1 0 69
Breakthrough Genomics, Breakthrough Genomics 0 0 3 7 47 57
PreventionGenetics, part of Exact Sciences 0 2 9 19 20 50
CeGaT Center for Human Genetics Tuebingen 1 0 3 5 7 16
Genome-Nilou Lab 0 0 0 0 6 6
OMIM 5 0 0 0 0 5
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 4 0 1 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 2 0 0 3
Center for Computational Biology & Bioinformatics, University of California, San Diego 0 0 3 0 0 3
Revvity Omics, Revvity 0 0 2 0 0 2
Mendelics 0 0 2 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 2
Fulgent Genetics, Fulgent Genetics 0 0 0 2 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 1 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 1 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 1
Eye Genetics Research Group, Children's Medical Research Institute 0 0 1 0 0 1
Miami Human Genetics, University Of Miami Miller School Of Medicine 0 0 1 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 1
Genetics Department, University Hospital of Toulouse 1 0 0 0 0 1
3billion 0 1 0 0 0 1
DBGen Ocular Genomics 1 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 1

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