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
7 3 191 123 45 319

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Naxos disease; Arrhythmogenic right ventricular cardiomyopathy, type 12 0 0 85 40 18 143
not specified 0 0 39 77 39 143
Cardiovascular phenotype 0 0 29 25 12 66
not provided 1 1 58 2 5 66
Naxos disease 6 0 36 15 1 57
Arrhythmogenic right ventricular cardiomyopathy 0 1 37 15 0 53
Cardiomyopathy 0 0 4 5 6 15
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
Left ventricular noncompaction 0 0 2 0 0 2
Paroxysmal familial ventricular fibrillation 1 0 0 2 0 0 2
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: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 1 0 83 40 18 142
GeneDx 1 1 46 52 27 127
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 12 2 8 22
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/Human Development Section,National Institutes of Health 0 0 10 0 3 13
PreventionGenetics 0 0 0 1 12 13
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 0 3 1 3 7
OMIM 6 0 0 0 0 6
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 3 0 2 5
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 0 5 0 0 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 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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