ClinVar Miner

Variants in gene ELN

Minimum submission review status: Collection method:
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Gene type:
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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
91 33 146 136 73 1 415

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Supravalvar aortic stenosis 71 21 109 58 40 0 285
not provided 20 11 33 40 13 0 115
Cutis laxa, autosomal dominant 1 7 1 33 13 40 0 93
not specified 0 0 8 55 13 0 74
Cutis laxa, autosomal dominant 0 0 8 6 8 0 22
Williams syndrome 1 0 2 1 0 0 4
Cutis laxa, autosomal dominant 1; Williams syndrome; Supravalvar aortic stenosis 0 0 3 0 0 0 3
Inborn genetic diseases 1 1 1 0 0 0 3
Cutis laxa, autosomal dominant 1; Supravalvar aortic stenosis 0 1 0 0 0 1 2
Atrioventricular septal defect 0 0 1 0 0 0 1
Dilatation of ascending aorta; Dilatation 0 0 1 0 0 0 1
ELN-related disorder 0 0 1 0 0 0 1
Familial thoracic aortic aneurysm and aortic dissection 0 0 0 1 0 0 1
Hypertelorism; Abnormality of digit; Venous malformation; Dural ectasia 1 0 0 0 0 0 1
Varicose veins; Inguinal hernia; Bruising susceptibility; Aortic root dilatation; 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: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 43 15 65 52 23 0 198
GeneDx 18 9 18 61 13 0 119
Illumina Clinical Services Laboratory,Illumina 0 0 49 39 48 0 105
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 20 4 6 5 8 0 43
OMIM 20 0 0 0 0 0 20
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 8 7 0 0 15
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 6 2 5 0 14
PreventionGenetics, PreventionGenetics 0 0 0 3 6 0 9
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 0 4 1 0 0 7
Blueprint Genetics 0 2 4 0 0 0 6
Ambry Genetics 1 1 1 0 0 0 3
Fulgent Genetics,Fulgent Genetics 0 0 3 0 0 0 3
Baylor Genetics 0 0 2 0 0 0 2
Mendelics 0 1 0 0 1 0 2
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
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 1 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 0 0 0 1
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 0 0 1 0 0 1
Laboratory Genomica,Gynecology and Assisted Reproduction Hospital Malinov DM 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 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
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1

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