ClinVar Miner

Variants in gene JPH2

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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
3 3 195 115 34 319

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Hypertrophic cardiomyopathy 0 0 127 50 19 196
not provided 0 1 52 19 11 82
not specified 0 0 15 52 17 78
Cardiovascular phenotype 0 0 15 33 10 58
Familial hypertrophic cardiomyopathy 17 3 1 10 11 11 31
Primary familial hypertrophic cardiomyopathy 0 1 6 0 0 7
Primary dilated cardiomyopathy 0 0 4 0 0 4
Cardiomyopathy 0 0 1 1 1 3
Cardiomyopathy, left ventricular noncompaction 0 0 2 0 0 2
Familial hypertrophic cardiomyopathy 1 0 0 2 0 0 2
Cardiomyopathy; Supraventricular tachycardia 0 0 0 1 0 1
Inborn genetic diseases 0 0 1 0 0 1
Left ventricular hypertrophy 0 0 1 0 0 1
Long QT syndrome 0 0 0 0 1 1
Primary dilated cardiomyopathy; Paroxysmal familial ventricular fibrillation 1 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 0 0 127 58 20 205
GeneDx 0 1 35 48 25 109
Ambry Genetics 0 0 16 33 10 59
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 9 8 13 30
Blueprint Genetics 0 1 15 0 0 16
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 1 7 8 16
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 0 7 5 2 14
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 9 2 12
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 1 2 6 9
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 3 0 4 7
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 7 0 0 7
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 1 4 6
Fulgent Genetics,Fulgent Genetics 0 0 6 0 0 6
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 5 0 0 5
OMIM 3 0 1 0 0 4
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 3 0 1 4
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 0 1 2 1 4
Baylor Genetics 0 0 2 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 1 0 0 1
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 1 0 0 1
Institute of Molecular Biology and Genetics, Federal Almazov North-West Medical Research Centre 0 0 1 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 0 0 0 1
Phosphorus, Inc. 0 0 0 0 1 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 1
Genetics and Genomics Program,Sidra Medicine 0 0 1 0 0 1

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