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 total
29 29 179 115 45 344

Condition and significance breakdown #

Total conditions: 22
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 9 15 61 60 30 163
Myofibrillar myopathy, BAG3-related; Dilated cardiomyopathy 1HH 14 1 104 8 2 129
not specified 0 0 29 48 30 97
Myofibrillar Myopathy, Dominant 0 0 15 27 8 50
Dilated Cardiomyopathy, Dominant 0 0 15 26 8 49
Cardiovascular phenotype 5 0 13 14 10 42
Dilated cardiomyopathy 1HH 8 6 2 0 0 16
Primary dilated cardiomyopathy 2 8 5 0 0 15
Myofibrillar myopathy, BAG3-related 2 0 0 0 8 10
Familial dilated cardiomyopathy 1 2 4 0 0 7
Dilated cardiomyopathy 1 0 0 1 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, arrhythmogenic right ventricular dysplasia 0 0 1 0 0 1
Cardiomyopathy; Premature ventricular contraction 0 0 1 0 0 1
Charcot-Marie-Tooth disease 0 1 0 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: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 15 5 104 60 20 204
GeneDx 8 8 40 40 33 129
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 2 6 23 20 14 65
Illumina Clinical Services Laboratory,Illumina 0 0 15 27 8 50
Ambry Genetics 6 0 13 14 10 43
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
PreventionGenetics,PreventionGenetics 0 0 0 5 10 15
Blueprint Genetics 1 3 10 0 0 14
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 1 2 6 2 1 12
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 10 11
Integrated Genetics/Laboratory Corporation of America 0 0 0 0 11 11
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 3 8 0 0 11
OMIM 9 0 1 0 0 10
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 7 2 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
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
Baylor Genetics 1 0 0 0 0 1
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 0 0 0 0 1
Institute of Human Genetics,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
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 0 0 1 1
Petrovsky Russian Research Center of Surgery, The Federal Agency for Scientific Organizations 0 0 1 0 0 1
Broad Institute Rare Disease Group,Broad Institute 1 0 0 0 0 1

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