ClinVar Miner

Variants in gene JUP

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 total
13 8 385 194 62 566

Condition and significance breakdown #

Total conditions: 23
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Naxos disease; Arrhythmogenic right ventricular cardiomyopathy, type 12 7 4 251 102 20 384
not specified 0 0 50 87 44 166
not provided 1 2 66 46 15 129
Naxos disease 6 0 100 9 5 120
Arrhythmogenic right ventricular cardiomyopathy, type 12 1 0 83 16 10 109
Cardiovascular phenotype 0 0 29 25 12 66
Cardiomyopathy 0 1 5 8 7 21
none provided 0 0 2 4 10 16
Arrhythmogenic right ventricular cardiomyopathy 0 1 6 0 1 8
Primary dilated cardiomyopathy 0 0 7 1 0 8
Primary familial hypertrophic cardiomyopathy 0 0 3 1 0 4
Cardiac arrhythmia 0 0 0 0 3 3
Wolff-Parkinson-White pattern 0 1 2 0 0 3
Cardiomyopathy; Hypertrophic cardiomyopathy 0 0 0 0 2 2
Left ventricular noncompaction 0 0 2 0 0 2
Left ventricular noncompaction 1 0 0 2 0 0 2
Paroxysmal familial ventricular fibrillation 1 0 0 2 0 0 2
Cardiomyopathy, left ventricular noncompaction 0 0 1 0 0 1
Conduction disorder of the heart 0 0 1 0 0 1
Hypertrophic cardiomyopathy 0 0 1 0 0 1
Left ventricular hypertrophy 0 0 1 0 0 1
Primary dilated cardiomyopathy; Cardiomyopathy 0 0 0 0 1 1
Primary familial dilated cardiomyopathy 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 7 4 251 113 20 395
GeneDx 1 1 46 57 38 143
Illumina Clinical Services Laboratory,Illumina 0 0 95 20 10 109
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 29 32 17 78
Ambry Genetics 0 0 29 25 12 66
Integrated Genetics/Laboratory Corporation of America 0 0 16 13 19 48
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 14 9 0 24
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 5 5 11 21
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 1 5 7 7 20
Blueprint Genetics 0 1 12 1 0 14
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 10 0 3 13
PreventionGenetics, PreventionGenetics 0 0 0 1 12 13
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 0 7 2 4 13
OMIM 6 0 0 0 0 6
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 5 0 0 5
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 5 0 0 5
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 0 0 1 4 5
Genetics and Genomics Program,Sidra Medicine 0 0 3 1 0 4
GeneReviews 2 0 0 0 1 3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 2 0 0 3
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 0 1 1 2
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 2
Baylor Genetics 0 0 1 0 0 1
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 1 0 0 1
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 0 1 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 0 1 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 0 1 0 0 1
Phosphorus, Inc. 0 0 0 1 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 1
Loeys Lab,Universiteit Antwerpen 0 0 1 0 0 1

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