ClinVar Miner

Variants in gene BAG3

Minimum submission review status: Collection method:
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Gene type:
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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 not provided total
106 39 667 345 74 1 1089

Condition and significance breakdown #

Total conditions: 26
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH 82 7 539 270 31 0 913
Cardiovascular phenotype 22 3 160 102 10 0 297
not provided 17 18 147 81 41 0 270
not specified 0 0 35 48 39 0 107
Dilated cardiomyopathy 1HH 10 6 56 6 6 0 83
Myofibrillar myopathy 6 3 0 26 9 34 1 72
Cardiomyopathy 0 0 7 7 9 0 23
Primary dilated cardiomyopathy 4 8 7 1 1 0 20
BAG3-related condition 1 0 8 0 0 0 9
Dilated Cardiomyopathy, Dominant 0 0 3 2 2 0 7
Inborn genetic diseases 0 0 7 0 0 0 7
Myofibrillar Myopathy, Dominant 0 0 3 2 2 0 7
Primary familial dilated cardiomyopathy 1 2 4 0 0 0 7
Dilated cardiomyopathy 1A 0 2 0 0 1 0 3
Long QT syndrome 0 0 2 1 0 0 3
Primary familial hypertrophic cardiomyopathy 0 0 3 0 0 0 3
Atrial fibrillation 0 0 0 0 2 0 2
Hypertrophic cardiomyopathy 0 0 1 0 1 0 2
Primary dilated cardiomyopathy; Myocarditis 1 1 0 0 0 0 2
Abnormality of the musculature 0 1 0 0 0 0 1
Cardiomyopathy; Premature ventricular contraction 0 0 1 0 0 0 1
Elevated circulating creatine kinase concentration 0 0 1 0 0 0 1
Familial isolated arrhythmogenic right ventricular dysplasia 0 0 1 0 0 0 1
Left ventricular noncompaction 0 0 1 0 0 0 1
Myofibrillar myopathy 0 0 1 0 0 0 1
Peripheral neuropathy 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 60
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 82 6 521 269 31 0 909
Ambry Genetics 22 3 167 102 10 0 304
GeneDx 11 13 77 58 48 0 207
Illumina Laboratory Services, Illumina 0 1 54 16 32 0 70
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 6 23 20 14 0 65
Fulgent Genetics, Fulgent Genetics 3 1 51 5 2 0 62
Revvity Omics, Revvity Omics 2 0 49 1 0 0 52
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 9 14 24 0 47
CeGaT Center for Human Genetics Tuebingen 2 0 12 24 6 0 44
Clinical Genetics, Academic Medical Center 2 0 3 2 29 0 36
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 1 15 13 0 30
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 4 6 16 0 26
Preventiongenetics, part of Exact Sciences 1 0 8 5 10 0 24
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 0 7 7 9 0 23
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 3 13 7 0 23
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 2 13 7 0 22
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 2 16 3 0 22
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 8 4 6 0 18
Eurofins Ntd Llc (ga) 0 0 5 4 9 0 18
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 1 4 5 3 3 0 16
Blueprint Genetics 1 3 10 0 0 0 14
Mayo Clinic Laboratories, Mayo Clinic 1 0 10 0 0 0 11
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 3 8 0 0 0 11
OMIM 9 0 1 0 0 0 10
Athena Diagnostics Inc 0 0 0 1 7 0 8
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 0 0 2 2 4 0 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 2 2 1 0 0 6
Mendelics 0 0 0 0 5 0 5
Klaassen Lab, Charite University Medicine Berlin 1 1 3 0 0 0 5
Baylor Genetics 1 0 2 0 0 0 3
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 3 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
Dept of Medical Biology, Uskudar University 0 0 2 1 0 0 3
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 2 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 1 0 0 0 2
Phosphorus, Inc. 0 0 2 0 0 0 2
Kariminejad - Najmabadi Pathology & Genetics Center 1 1 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 0 1 0 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
GeneReviews 0 0 0 0 0 1 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 0 0 1 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 0 1 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 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
Broad Institute Rare Disease Group, Broad Institute 1 0 0 0 0 0 1
Molecular Genetics laboratory, Necker Hospital 1 0 0 0 0 0 1
KTest Genetics, KTest 1 0 0 0 0 0 1
Clinical Center for Gene Diagnosis and Therapy, Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University 0 0 1 0 0 0 1
DASA 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 0 0 1 0 0 0 1
Research Unit of Cardiovascular and Metabolic Disease, Inserm 1 0 0 0 0 0 1

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