ClinVar Miner

Variants in gene AKAP9

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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
1 4 370 287 125 667

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 3 258 56 2 318
not provided 0 0 62 156 116 308
Cardiovascular phenotype 0 0 65 93 30 188
Romano-Ward syndrome 0 0 76 27 0 103
not specified 0 0 10 34 32 75
Long QT syndrome 11 1 1 12 16 16 46
Cardiomyopathy 0 0 0 4 3 7
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
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
Amyloidosis; Dilated cardiomyopathy 0 0 0 0 1 1
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
Dilated cardiomyopathy 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 0 0 1 0 0 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: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 0 0 174 142 74 390
Ambry Genetics 0 0 65 93 30 188
GeneDx 0 0 8 51 62 121
Illumina Clinical Services Laboratory,Illumina 0 0 79 28 0 107
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 17 33 16 66
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 17 11 9 37
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 18 4 0 22
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 0 1 11 9 21
Blueprint Genetics 0 1 16 2 0 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
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 0 5 4 1 10
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
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 2
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
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 2 0 0 2
OMIM 1 0 0 0 0 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 0 0 1 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
Phosphorus, Inc. 0 0 1 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 1

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