ClinVar Miner

Variants in gene JUP

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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
9 6 214 159 55 387

Condition and significance breakdown #

Total conditions: 19
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 1 2 63 81 31 170
not specified 0 0 40 80 39 147
Naxos disease; Arrhythmogenic right ventricular cardiomyopathy, type 12 2 3 109 8 2 124
Cardiovascular phenotype 0 0 29 25 12 66
Naxos disease 6 0 36 15 1 57
Arrhythmogenic right ventricular cardiomyopathy 0 1 37 15 1 53
Cardiomyopathy 0 0 4 6 6 16
Primary familial hypertrophic cardiomyopathy 0 0 3 1 0 4
Arrhythmogenic right ventricular cardiomyopathy, type 12 1 0 1 1 0 3
Cardiac arrhythmia 0 0 0 0 3 3
Primary dilated cardiomyopathy 0 0 3 0 0 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
Paroxysmal familial ventricular fibrillation 1 0 0 2 0 0 2
Cardiomyopathy; Dilated cardiomyopathy 0 0 0 0 1 1
Familial dilated cardiomyopathy 0 0 1 0 0 1
Left ventricular hypertrophy 0 0 1 0 0 1
Left ventricular noncompaction cardiomyopathy 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 3 3 107 81 20 214
GeneDx 1 1 46 57 38 143
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 0 28 32 17 77
Ambry Genetics 0 0 29 25 12 66
Illumina Clinical Services Laboratory,Illumina 0 0 36 15 0 51
Integrated Genetics/Laboratory Corporation of America 0 0 9 5 8 22
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 11 6 0 18
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 0 4 5 6 15
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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 4 1 6 11
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 0 3 1 3 7
OMIM 6 0 0 0 0 6
Stanford Center for Inherited Cardiovascular Disease, Stanford University 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
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
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 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
Phosphorus, Inc. 0 0 0 1 0 1

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