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
63 21 79 127 44 1 306

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Supravalvar aortic stenosis 43 8 45 44 11 0 148
not provided 18 11 29 53 30 0 138
not specified 0 0 8 55 13 0 74
Cutis laxa, autosomal dominant 0 0 22 38 8 0 68
Cutis laxa, autosomal dominant 1 7 1 0 0 0 0 8
Cutis laxa, autosomal dominant 1; Williams syndrome; Supravalvar aortic stenosis 0 0 3 0 0 0 3
Cutis laxa, autosomal dominant 1; Supravalvar aortic stenosis 0 1 0 0 0 1 2
Inborn genetic diseases 1 1 0 0 0 0 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
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: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 17 9 18 61 13 0 118
Invitae 13 4 24 46 23 0 110
Illumina Clinical Services Laboratory,Illumina 0 0 22 38 8 0 68
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 20 4 6 5 8 0 43
OMIM 20 0 0 0 0 0 20
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 6 2 5 0 14
PreventionGenetics,PreventionGenetics 0 0 0 3 6 0 9
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 6 3 0 0 9
Blueprint Genetics 0 2 4 0 0 0 6
Fulgent Genetics,Fulgent Genetics 0 0 3 0 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 2 0 0 0 3
Ambry Genetics 1 1 0 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
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 1 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 1 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

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