ClinVar Miner

Variants in gene EDN3

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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 risk factor total
6 5 114 53 20 3 185

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
not provided 0 0 43 34 15 0 89
Hirschsprung disease, susceptibility to, 4 0 0 44 12 12 3 68
Inborn genetic diseases 0 0 22 1 0 0 23
not specified 0 0 3 7 4 0 14
EDN3-related disorder 1 0 5 5 0 0 11
Waardenburg syndrome type 4B 6 3 1 2 0 0 10
Hirschsprung Disease, Dominant 0 0 7 2 0 0 9
Waardenburg syndrome 0 0 6 0 0 0 6
Waardenburg syndrome type 4B; Hirschsprung disease, susceptibility to, 4 0 0 4 0 1 0 5
Abnormal rectum morphology; Megacolon 0 0 1 0 0 0 1
Aganglionic megacolon 0 1 0 0 0 0 1
Congenital central hypoventilation 0 0 1 0 0 0 1
Sensorineural hearing loss disorder 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Illumina Laboratory Services, Illumina 0 0 49 13 12 0 74
GeneDx 0 0 27 13 9 0 49
Labcorp Genetics (formerly Invitae), Labcorp 0 0 19 23 3 0 45
Ambry Genetics 0 0 22 1 0 0 23
PreventionGenetics, part of Exact Sciences 1 0 5 6 0 0 12
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 2 5 4 0 11
Breakthrough Genomics, Breakthrough Genomics 0 0 2 1 7 0 10
OMIM 5 0 1 0 0 3 9
Fulgent Genetics, Fulgent Genetics 0 0 2 0 1 0 3
CeGaT Center for Human Genetics Tuebingen 0 0 0 1 2 0 3
Center for Human Genetics, Inc, Center for Human Genetics, Inc 1 1 0 0 0 0 2
Revvity Omics, Revvity 0 1 1 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 2 0 0 0 2
Mendelics 0 0 0 2 0 0 2
Eurofins Ntd Llc (ga) 0 0 0 2 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 0 2
Athena Diagnostics 0 0 0 0 1 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 1
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Center for Statistical Genetics, Columbia University 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
Human Genomics Unit, Institute for molecular medicine Finland (FIMM) 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 1 0 0 1

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