ClinVar Miner

Variants in gene ABCC9

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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
12 17 204 143 53 2 380

Condition and significance breakdown #

Total conditions: 23
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not specified 0 0 49 105 43 1 180
Dilated cardiomyopathy 1O 4 1 62 33 24 0 124
not provided 2 10 66 7 3 0 87
Hypertrichotic osteochondrodysplasia 8 2 27 10 0 0 47
Cardiomyopathy 0 3 12 14 15 0 41
Cardiovascular phenotype 0 0 15 15 8 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
Familial dilated cardiomyopathy 0 0 3 0 0 0 3
Arrhythmogenic right ventricular cardiomyopathy 0 0 2 0 0 0 2
Hypertrichotic osteochondrodysplasia; Dilated cardiomyopathy 1O; Atrial fibrillation, familial, 12 0 0 2 0 0 0 2
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
Dilated cardiomyopathy 1O; Atrial fibrillation, familial, 12 0 0 0 0 0 1 1
Ductal breast carcinoma 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: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 2 7 48 73 34 0 164
Invitae 2 1 61 33 24 0 121
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 39 40 20 1 100
Ambry Genetics 0 1 15 15 8 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 5 3 9 0 19
Biesecker Lab/Human Development Section,National Institutes of Health 0 0 10 6 2 0 18
PreventionGenetics 0 0 0 3 10 0 13
OMIM 11 0 0 0 0 0 11
Blueprint Genetics, 0 0 8 1 0 0 9
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 5 0 2 0 7
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 3 1 3 0 7
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 0 6 0 0 0 6
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 3 0 1 0 0 4
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 0 3 0 0 0 3
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
Baylor Genetics 1 0 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 0 1 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories, Inc. 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
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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 1 0 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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