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
14 21 394 272 101 2 714

Condition and significance breakdown #

Total conditions: 30
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Dilated cardiomyopathy 1O 6 2 279 116 32 0 409
not provided 2 10 76 81 43 0 209
not specified 0 0 52 110 51 1 195
Hypertrichotic osteochondrodysplasia Cantu type 8 4 47 8 12 0 78
Cardiomyopathy 0 3 17 15 19 0 54
Cardiovascular phenotype 0 0 14 15 9 0 38
none provided 0 0 0 3 12 0 15
Primary dilated cardiomyopathy 0 0 7 1 1 0 9
Dilated Cardiomyopathy, Dominant 0 0 5 2 0 0 7
Familial atrial fibrillation 0 0 5 1 0 0 6
Arrhythmogenic right ventricular cardiomyopathy 0 0 2 1 1 0 4
Atrial fibrillation, familial, 12 2 0 1 0 0 0 3
Hypertrichotic osteochondrodysplasia Cantu type; Dilated cardiomyopathy 1O; Atrial fibrillation, familial, 12 1 0 2 0 0 0 3
Primary familial dilated cardiomyopathy 0 0 3 0 0 0 3
ABCC9-Related Disorders 0 0 2 0 0 0 2
Hypertrophic cardiomyopathy 0 0 2 0 0 0 2
Wolff-Parkinson-White pattern 0 1 1 0 0 0 2
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 1A 0 0 1 0 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
Epicanthus; Micrognathia; Tapered finger; Coarse facial features; Abnormal facial shape; Bulbous nose; Depressed nasal bridge; Thick upper lip vermilion; Macrocephalus; Abnormality of the face; Low anterior hairline; Large hands; Joint hypermobility; Left ventricular hypertrophy; Patent ductus arteriosus 1 0 0 0 0 0 1
Inborn genetic diseases 0 1 0 0 0 0 1
Kleefstra syndrome 1 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: 41
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 4 1 235 135 32 0 407
GeneDx 2 7 48 101 72 0 230
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 39 40 21 1 101
Illumina Clinical Services Laboratory,Illumina 1 0 54 12 12 0 70
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 0 16 14 17 0 47
Integrated Genetics/Laboratory Corporation of America 0 3 8 6 24 0 41
Ambry Genetics 0 1 14 15 9 0 39
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 6 4 13 0 23
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 10 6 2 0 18
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 9 8 0 0 17
PreventionGenetics, 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
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 0 7 1 0 0 8
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
Baylor Genetics 3 1 1 0 0 0 5
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
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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 2 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 1 1 0 0 0 0 2
Genetics and Genomics Program,Sidra Medicine 0 0 2 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 0 0 1 0 0 0 1
Mayo Clinic 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
Institute of Human Genetics, Klinikum rechts der Isar 1 0 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
Knight Diagnostic Laboratories, Oregon Health and Sciences University 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
Loeys Lab,Universiteit Antwerpen 0 0 1 0 0 0 1

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