ClinVar Miner

Variants in gene AKAP9

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
1 5 580 325 129 909

Condition and significance breakdown #

Total conditions: 29
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Long QT syndrome 0 4 410 142 66 621
not provided 0 0 65 121 57 234
Cardiovascular phenotype 0 0 60 97 30 187
not specified 0 0 20 45 46 106
Romano-Ward syndrome 0 0 76 27 0 103
Long QT syndrome 11 1 1 19 16 17 53
Cardiomyopathy 0 0 0 3 3 6
Long QT syndrome 1 0 0 6 0 0 6
Cardiac arrest 0 0 4 0 0 4
Cardiac arrhythmia 0 0 0 2 1 3
Hypertrophic cardiomyopathy 0 0 1 2 0 3
Ventricular fibrillation 0 0 2 1 0 3
Primary dilated cardiomyopathy 0 0 1 0 1 2
See cases 0 0 2 0 0 2
Ventricular tachycardia 0 0 1 1 0 2
Wolff-Parkinson-White pattern 0 0 2 0 0 2
Arrhythmogenic right ventricular cardiomyopathy 0 0 0 1 0 1
Atrial fibrillation; Cardiomyopathy; Heart failure; Hypertrophic cardiomyopathy 0 0 0 0 1 1
Brugada syndrome 1 0 0 0 0 1 1
Cardiomyopathy; Long QT syndrome 0 0 0 0 1 1
Cardiomyopathy; Ventricular fibrillation 0 0 0 0 1 1
Catecholaminergic polymorphic ventricular tachycardia 0 0 0 1 0 1
Colorectal cancer 0 0 0 0 1 1
Heart failure 0 0 0 1 0 1
Long QT syndrome 2 0 0 1 0 0 1
Primary dilated cardiomyopathy; Amyloidosis 0 0 0 0 1 1
Restrictive cardiomyopathy 0 0 0 0 1 1
Sudden cardiac death 0 0 1 0 0 1
unspecified heart condition 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 0 0 395 184 74 653
Ambry Genetics 0 0 60 97 30 187
GeneDx 0 0 6 50 61 117
Illumina Clinical Services Laboratory,Illumina 0 0 77 27 0 104
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 17 33 16 66
Integrated Genetics/Laboratory Corporation of America 0 1 11 13 35 60
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 17 11 9 37
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 21 4 0 25
Blueprint Genetics 0 1 16 2 0 19
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 0 12 6 1 19
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 0 0 10 9 19
PreventionGenetics, PreventionGenetics 0 0 0 0 14 14
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 3 1 9 13
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 0 12 1 0 13
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 9 2 11
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 11 11
Baylor Genetics 0 0 5 0 0 5
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 5 5
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 4 0 0 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 3 3
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 2 1 3
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 0 0 0 2 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 2 0 0 2
Center for Human Genetics,University of Leuven 0 0 2 0 0 2
Medical Research Institute,Tokyo Medical and Dental University 0 2 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 2 0 0 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 2 0 0 2
OMIM 1 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 1 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 1
ISCA site 1 0 0 1 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 1 0 0 1
Phosphorus, Inc. 0 0 1 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 1

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