ClinVar Miner

Variants in gene JPH2

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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
7 5 593 391 71 1 982

Condition and significance breakdown #

Total conditions: 19
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hypertrophic cardiomyopathy 1 0 344 213 28 0 585
Cardiovascular phenotype 0 0 317 240 11 0 564
not provided 0 3 135 64 46 0 233
not specified 0 0 23 65 38 0 104
Hypertrophic cardiomyopathy 17; Cardiomyopathy, dilated, 2E 0 0 58 3 0 0 61
Hypertrophic cardiomyopathy 17 3 1 15 11 10 0 36
JPH2-related disorder 0 0 14 18 3 0 35
Cardiomyopathy, dilated, 2E 2 0 7 0 2 0 10
Primary familial hypertrophic cardiomyopathy 0 1 6 0 0 0 7
Primary dilated cardiomyopathy 0 0 6 0 0 0 6
Cardiomyopathy 1 0 1 1 1 0 4
Hypertrophic cardiomyopathy 1 0 0 2 0 0 0 2
Hypertrophic cardiomyopathy 2 0 0 0 1 0 1 2
Left ventricular noncompaction cardiomyopathy 0 0 2 0 0 0 2
Cardiomyopathy; Supraventricular tachycardia 0 0 0 1 0 0 1
EBV-positive nodal T- and NK-cell lymphoma 0 0 0 1 0 0 1
Left ventricular hypertrophy 0 0 1 0 0 0 1
Long QT syndrome 0 0 0 0 1 0 1
Primary dilated cardiomyopathy; Ventricular fibrillation, paroxysmal familial, type 1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 49
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 1 0 343 213 28 0 585
Ambry Genetics 0 0 307 240 11 0 558
GeneDx 0 2 101 73 45 0 221
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 0 20 30 13 0 63
Fulgent Genetics, Fulgent Genetics 0 0 50 3 0 0 53
Clinical Genetics, Academic Medical Center 0 0 9 4 26 0 39
PreventionGenetics, part of Exact Sciences 0 0 14 18 3 0 35
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 11 12 9 0 33
Breakthrough Genomics, Breakthrough Genomics 0 0 4 9 20 0 33
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 10 8 13 0 31
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 3 17 10 0 30
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 5 16 7 0 28
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 6 12 2 0 20
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 3 5 8 0 17
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 2 6 8 0 16
Blueprint Genetics 0 1 15 0 0 0 16
CeGaT Center for Human Genetics Tuebingen 0 0 4 5 5 0 14
Eurofins Ntd Llc (ga) 0 0 3 0 4 0 7
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 7 0 0 0 7
OMIM 5 0 1 0 0 0 6
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 6 0 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 5 0 0 0 5
Baylor Genetics 0 0 4 0 0 0 4
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 3 0 1 0 4
Revvity Omics, Revvity 0 0 4 0 0 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 4 0 0 0 4
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 0 0 1 2 1 0 4
AiLife Diagnostics, AiLife Diagnostics 0 1 3 0 0 0 4
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 0 0 0 3
Institute of Human Genetics, University of Wuerzburg 0 0 1 1 0 1 3
Clinical Genomics Laboratory, Stanford Medicine 0 0 3 0 0 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 2 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Clinical Center for Gene Diagnosis and Therapy, Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University 0 0 2 0 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 1 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 1
Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 1
Phosphorus, Inc. 0 0 0 0 1 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 1
Genetics and Genomics Program, Sidra Medicine 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
Zaffran Lab, Genetics of Cardiac Diseases Laboratory, Marseille Medical Genetics 0 0 1 0 0 0 1
KardioGenetik, Herz- und Diabeteszentrum NRW 0 0 1 0 0 0 1
Department of Clinical Pathology, School of Medicine, Fujita Health University 0 0 0 1 0 0 1

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