ClinVar Miner

Variants in gene ABCC9

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
13 19 233 233 94 2 526

Condition and significance breakdown #

Total conditions: 27
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 2 10 75 123 69 0 269
not specified 0 0 48 105 44 1 181
Dilated cardiomyopathy 1O 4 2 83 11 3 0 103
Hypertrichotic osteochondrodysplasia 8 3 27 10 0 0 48
Cardiomyopathy 0 3 12 14 15 0 42
Cardiovascular phenotype 0 0 14 15 9 0 38
Dilated Cardiomyopathy, Dominant 0 0 27 9 0 0 36
Familial atrial fibrillation 0 0 27 9 0 0 36
Primary dilated cardiomyopathy 0 0 5 0 1 0 6
Arrhythmogenic right ventricular cardiomyopathy 0 0 2 1 1 0 4
Familial dilated cardiomyopathy 0 0 3 0 0 0 3
Hypertrichotic osteochondrodysplasia; Dilated cardiomyopathy 1O; Atrial fibrillation, familial, 12 1 0 2 0 0 0 3
Wolff-Parkinson-White pattern 0 1 1 0 0 0 2
ABCC9-Related Disorders 0 0 1 0 0 0 1
Atrial fibrillation, familial, 12 1 0 0 0 0 0 1
Brugada syndrome 0 0 0 1 0 0 1
Cardiomyopathy; Ventricular tachycardia 0 0 0 0 1 0 1
Conduction disorder of the heart 0 0 0 1 0 0 1
Dilated cardiomyopathy 0 0 0 1 0 0 1
Dilated cardiomyopathy 1O; Atrial fibrillation, familial, 12 0 0 0 0 0 1 1
Ductal breast carcinoma 0 0 1 0 0 0 1
Hypertrophic cardiomyopathy 0 0 1 0 0 0 1
Inborn genetic diseases 0 1 0 0 0 0 1
Myocardial infarction 0 0 0 0 1 0 1
Primary familial hypertrophic cardiomyopathy 0 0 1 0 0 0 1
Prolonged QT interval 0 0 1 0 0 0 1
See cases 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 2 7 48 101 72 0 230
Invitae 2 2 81 96 32 0 213
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 0 39 39 21 1 100
Ambry Genetics 0 1 14 15 9 0 39
Illumina Clinical Services Laboratory,Illumina 0 0 28 9 0 0 37
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 1 10 11 13 0 35
Integrated Genetics/Laboratory Corporation of America 0 2 4 3 10 0 19
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 10 6 2 0 18
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 8 8 0 0 16
PreventionGenetics,PreventionGenetics 0 0 0 3 10 0 13
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 6 1 5 0 12
OMIM 11 0 0 0 0 0 11
Blueprint Genetics 0 0 8 1 0 0 9
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 3 1 3 0 7
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 0 6 1 0 0 7
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 0 6 0 0 0 6
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 0 0 3 2 0 5
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 3 0 1 0 0 4
Mendelics 0 0 1 0 2 0 3
Baylor Genetics 2 0 0 0 0 0 2
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 1 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 1 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 0 0 1 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 1 0 0 0 0 1
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 0 1 0 0 0 1
Scripps Translational Science Institute,Scripps Health and The Scripps Research Institute 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 0 1 0 0 0 1
Center for Human Genetics,University of Leuven 0 0 1 0 0 0 1
Next Generation Diagnostics,Novartis Institutes for BioMedical Research, Inc. 0 0 1 0 0 0 1
Phosphorus, Inc. 0 0 0 1 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1

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