ClinVar Miner

Variants in gene ELN

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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 not provided total
129 53 432 354 116 3 956

Condition and significance breakdown #

Total conditions: 18
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Supravalvar aortic stenosis 106 29 330 261 76 0 768
not provided 28 17 144 98 38 0 312
Cutis laxa, autosomal dominant 1 7 2 37 13 43 0 101
ELN-related condition 4 4 21 40 2 0 71
not specified 0 0 14 42 20 0 68
Inborn genetic diseases 1 1 35 3 0 0 40
Cutis laxa, autosomal dominant 0 0 8 6 8 0 22
Cutis laxa, autosomal dominant 1; Williams syndrome; Supravalvar aortic stenosis 0 2 13 2 1 2 20
Williams syndrome 1 0 3 1 0 0 5
Cutis laxa, autosomal dominant 1; Supravalvar aortic stenosis 0 1 1 0 0 1 3
See cases 0 0 1 0 1 0 2
Ascending tubular aorta aneurysm; Vascular dilatation 0 0 1 0 0 0 1
ELN-related disorder 0 0 1 0 0 0 1
Familial atrioventricular septal defect 0 0 1 0 0 0 1
Familial thoracic aortic aneurysm and aortic dissection 0 0 0 1 0 0 1
Hypertelorism; Abnormal digit morphology; Venous malformation; Dural ectasia 1 0 0 0 0 0 1
Stroke disorder 0 0 1 0 0 0 1
Varicose disease; Inguinal hernia; Bruising susceptibility; Aortic root aneurysm; Gastrointestinal carcinoma; Prominent superficial blood vessels; Dilatation of the sinus of Valsalva; Colorectal polyposis 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 54
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 78 21 289 245 63 0 696
GeneDx 24 10 119 98 34 0 285
Illumina Laboratory Services, Illumina 0 0 50 39 48 0 106
PreventionGenetics, part of Exact Sciences 4 4 21 43 8 0 80
CeGaT Center for Human Genetics Tuebingen 0 0 20 26 5 0 51
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 20 4 6 5 8 0 43
Ambry Genetics 1 1 35 3 0 0 40
OMIM 18 0 0 0 0 0 18
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 1 11 6 0 18
Fulgent Genetics, Fulgent Genetics 0 2 13 2 1 0 18
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 10 8 0 18
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 16 0 0 17
Eurofins Ntd Llc (ga) 1 0 6 2 5 0 14
Revvity Omics, Revvity 1 2 8 0 0 0 11
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 4 2 2 0 9
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 6 2 0 8
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 4 1 0 0 7
Blueprint Genetics 0 2 4 0 0 0 6
Mendelics 0 1 2 0 1 0 4
AiLife Diagnostics, AiLife Diagnostics 0 3 1 0 0 0 4
Baylor Genetics 0 0 3 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 2 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 2 0 3
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 3 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 0 1 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 1 1 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 1 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 0 1
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 1 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 1 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 1 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 0 1 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 0 0 0 0 1
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
3billion 1 0 0 0 0 0 1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 1 0 0 0 0 0 1
Suma Genomics 0 0 1 0 0 0 1
Cardiology, Hunan Children’s Hospital 1 0 0 0 0 0 1
KardioGenetik, Herz- und Diabeteszentrum NRW 1 0 0 0 0 0 1

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