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
25 27 157 88 36 285

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Myofibrillar myopathy, BAG3-related; Dilated cardiomyopathy 1HH 10 1 85 26 19 141
not specified 0 0 28 47 30 96
not provided 8 14 57 5 12 89
Myofibrillar Myopathy, Dominant 0 0 15 27 8 50
Dilated Cardiomyopathy, Dominant 0 0 15 26 8 49
Cardiovascular phenotype 5 0 14 13 10 42
Dilated cardiomyopathy 1HH 9 6 1 0 0 16
Primary dilated cardiomyopathy 2 8 2 0 0 12
Myofibrillar myopathy, BAG3-related 2 0 0 0 5 7
Familial dilated cardiomyopathy 1 1 1 0 0 3
Primary familial hypertrophic cardiomyopathy 0 0 3 0 0 3
Cardiomyopathy, arrhythmogenic right ventricular dysplasia 0 0 1 0 0 1
Charcot-Marie-Tooth disease 0 1 0 0 0 1
Dilated cardiomyopathy 1 0 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

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 12 5 85 26 19 147
GeneDx 7 8 40 31 25 111
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 6 23 19 14 64
Illumina Clinical Services Laboratory,Illumina 0 0 15 27 8 50
Ambry Genetics 6 0 14 13 10 43
Biesecker Lab/Human Development Section,National Institutes of Health 0 0 8 4 6 18
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 5 4 9 18
PreventionGenetics 0 0 0 5 10 15
Blueprint Genetics, 1 3 10 0 0 14
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
Athena Diagnostics Inc 0 0 0 0 7 7
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 1 1 2 2 1 7
Fulgent Genetics 2 0 4 0 0 6
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 0 5 5
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 2 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 0 0 2
Baylor Miraca Genetics Laboratories, 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
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 1 0 0 0 0 1

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