ClinVar Miner

Variants in gene BAG3

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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
54 30 311 133 60 499

Condition and significance breakdown #

Total conditions: 23
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Myofibrillar myopathy, BAG3-related; Dilated cardiomyopathy 1HH 38 3 224 68 20 353
not provided 11 15 61 38 19 136
not specified 0 0 29 51 32 98
Dilated cardiomyopathy 1HH 8 3 54 5 6 76
Myofibrillar myopathy, BAG3-related 2 0 24 9 33 68
Cardiovascular phenotype 5 0 13 14 10 42
Primary dilated cardiomyopathy 3 8 6 1 1 18
none provided 0 0 3 2 8 13
Dilated Cardiomyopathy, Dominant 0 0 3 2 2 7
Myofibrillar Myopathy, Dominant 0 0 3 2 2 7
Primary familial dilated cardiomyopathy 1 2 4 0 0 7
Dilated cardiomyopathy 1A 0 2 0 0 1 3
Primary familial hypertrophic cardiomyopathy 0 0 3 0 0 3
Atrial fibrillation 0 0 0 0 2 2
Hypertrophic cardiomyopathy 0 0 1 0 1 2
Cardiomyopathy 0 0 0 1 0 1
Cardiomyopathy; Premature ventricular contraction 0 0 1 0 0 1
Charcot-Marie-Tooth disease 0 1 0 0 0 1
Familial isolated arrhythmogenic right ventricular dysplasia 0 0 1 0 0 1
Inborn genetic diseases 1 0 0 0 0 1
Left ventricular noncompaction 0 0 1 0 0 1
Myofibrillar myopathy 0 0 1 0 0 1
Peripheral axonal neuropathy 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 38 4 224 83 20 369
GeneDx 8 8 40 40 33 129
Illumina Clinical Services Laboratory,Illumina 0 0 54 16 32 69
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 6 23 20 14 65
Ambry Genetics 6 0 13 14 10 43
Integrated Genetics/Laboratory Corporation of America 0 0 0 4 18 22
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 8 4 6 18
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 5 4 9 18
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 3 3 11 17
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 1 4 5 3 3 16
CeGaT Praxis fuer Humangenetik Tuebingen 1 1 9 5 0 16
PreventionGenetics, PreventionGenetics 0 0 0 5 10 15
Blueprint Genetics 1 3 10 0 0 14
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 3 8 0 0 11
OMIM 9 0 1 0 0 10
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 0 2 2 4 8
Athena Diagnostics Inc 0 0 0 0 7 7
Fulgent Genetics,Fulgent Genetics 2 0 4 0 0 6
Mendelics 0 0 0 0 5 5
Baylor Genetics 1 0 2 0 0 3
Klaassen Lab,Charite University Medicine Berlin 0 0 3 0 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 2 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 1 0 0 2
Kariminejad - Najmabadi Pathology & Genetics Center 1 1 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 0 0 0 0 1
Clinical Genetics laboratory, University of Goettingen 0 1 0 0 0 1
GeneReviews 1 0 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 0 1 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 0 0 1 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 0 1 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 1
Broad Institute Rare Disease Group, Broad Institute 1 0 0 0 0 1

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