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
61 18 69 92 25 1 247

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Supravalvar aortic stenosis 41 7 40 51 21 0 152
not specified 0 0 7 54 13 0 72
Cutis laxa, autosomal dominant 0 0 22 38 8 0 68
not provided 18 9 23 1 1 0 52
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
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: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 17 9 18 48 2 0 94
Illumina Clinical Services Laboratory,Illumina 0 0 22 38 8 0 68
Invitae 11 3 19 16 14 0 63
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 20 4 5 4 8 0 41
OMIM 20 0 0 0 0 0 20
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 6 2 5 0 14
PreventionGenetics 0 0 0 3 6 0 9
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 3 1 0 0 4
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
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 0 1 0 2
Mendelics 0 1 0 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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