ClinVar Miner

Variants in gene JUP

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
27 12 701 515 105 3 1155

Condition and significance breakdown #

Total conditions: 25
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Naxos disease; Arrhythmogenic right ventricular dysplasia 12 21 6 504 371 31 0 925
Cardiovascular phenotype 0 0 190 185 23 0 398
not provided 2 2 122 77 54 0 241
not specified 0 0 61 91 59 0 183
Naxos disease 6 0 98 9 7 0 120
Arrhythmogenic right ventricular dysplasia 12 1 1 82 16 12 3 112
Cardiomyopathy 0 1 25 15 18 0 59
JUP-related condition 0 0 6 18 1 0 25
Inborn genetic diseases 0 0 15 1 0 0 16
Arrhythmogenic right ventricular cardiomyopathy 0 1 9 0 1 0 11
Primary dilated cardiomyopathy 0 1 7 1 0 0 9
Primary familial hypertrophic cardiomyopathy 0 0 3 1 0 0 4
Cardiac arrhythmia 0 0 0 0 3 0 3
Wolff-Parkinson-White pattern 0 1 2 0 0 0 3
Cardiomyopathy; Hypertrophic cardiomyopathy 0 0 0 0 2 0 2
Left ventricular noncompaction 0 0 2 0 0 0 2
Left ventricular noncompaction 1 0 0 2 0 0 0 2
Long QT syndrome 0 0 2 0 0 0 2
Ventricular fibrillation, paroxysmal familial, type 1 0 0 2 0 0 0 2
Conduction disorder of the heart 0 0 1 0 0 0 1
Hypertrophic cardiomyopathy 0 0 1 0 0 0 1
Left ventricular hypertrophy 0 0 1 0 0 0 1
Left ventricular noncompaction cardiomyopathy 0 0 1 0 0 0 1
Primary dilated cardiomyopathy; Cardiomyopathy 0 0 0 0 1 0 1
Primary familial dilated cardiomyopathy 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 52
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 21 6 492 369 31 0 919
Ambry Genetics 0 0 205 186 23 0 414
GeneDx 1 1 102 83 67 0 254
Illumina Laboratory Services, Illumina 0 0 92 20 9 0 105
Fulgent Genetics, Fulgent Genetics 0 0 86 12 0 0 98
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 26 29 29 0 84
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 29 32 17 0 78
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 1 24 14 12 0 51
Clinical Genetics, Academic Medical Center 0 0 5 0 35 0 40
PreventionGenetics, part of Exact Sciences 0 0 6 19 13 0 38
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 6 14 15 0 35
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 9 11 10 0 30
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 10 14 6 0 30
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 7 9 12 0 28
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 9 7 11 0 27
Blueprint Genetics 0 1 12 1 0 0 14
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 10 0 3 0 13
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 0 7 2 4 0 13
CeGaT Center for Human Genetics Tuebingen 0 0 3 9 1 0 13
OMIM 6 0 0 0 0 0 6
Phosphorus, Inc. 0 0 1 5 0 0 6
Cohesion Phenomics 0 0 0 0 6 0 6
Revvity Omics, Revvity 2 0 3 0 0 0 5
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 5 0 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 5 0 0 0 5
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 0 0 0 1 4 0 5
AiLife Diagnostics, AiLife Diagnostics 0 1 4 0 0 0 5
Genome-Nilou Lab 0 0 0 0 5 0 5
Mayo Clinic Laboratories, Mayo Clinic 0 0 4 0 0 0 4
Genetics and Genomics Program, Sidra Medicine 0 0 3 1 0 0 4
GeneReviews 0 0 0 0 0 3 3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 2 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 0 3
Molecular Genetics Laboratory - Cardiogenetics, CHU de Nantes 0 0 3 0 0 0 3
MGZ Medical Genetics Center 0 0 2 0 0 0 2
Eurofins Ntd Llc (ga) 0 0 0 1 1 0 2
New York Genome Center 0 0 2 0 0 0 2
Dept of Medical Biology, Uskudar University 0 0 2 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 1 0 0 0 1
Mendelics 0 0 1 0 0 0 1
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 1
Loeys Lab, Universiteit Antwerpen 0 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 1
Cardiology, Hunan Children’s Hospital 0 1 0 0 0 0 1
Research Unit of Cardiovascular and Metabolic Disease, Inserm 0 1 0 0 0 0 1

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