ClinVar Miner

Variants in gene AKAP9

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 4 312 213 78 502

Condition and significance breakdown #

Total conditions: 18
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Long QT syndrome 0 3 201 113 54 337
Cardiovascular phenotype 0 0 76 83 29 188
Romano-Ward syndrome 0 0 76 27 0 103
not provided 0 0 46 36 10 86
not specified 0 0 10 34 32 75
Long QT syndrome 11 1 1 8 10 14 34
Cardiac arrest 0 0 4 0 0 4
Cardiac arrhythmia 0 0 0 2 1 3
Ventricular fibrillation 0 0 2 1 0 3
See cases 0 0 2 0 0 2
Wolff-Parkinson-White pattern 0 0 2 0 0 2
Brugada syndrome 1 0 0 0 0 1 1
Colorectal cancer 0 0 0 0 1 1
Hypertrophic cardiomyopathy 0 0 1 0 0 1
Long QT syndrome 2 0 0 1 0 0 1
Primary dilated cardiomyopathy 0 0 1 0 0 1
Sudden cardiac death 0 0 1 0 0 1
Ventricular tachycardia 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 31
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 0 0 117 85 54 256
Ambry Genetics 0 0 76 83 29 188
Illumina Clinical Services Laboratory,Illumina 0 0 79 28 0 107
Biesecker Lab/Human Development Section,National Institutes of Health 0 0 17 33 16 66
GeneDx 0 0 8 32 23 63
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 14 5 7 26
Blueprint Genetics, 0 1 16 2 0 19
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
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
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 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 0 0 2 0 0 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
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
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 0 0 0 1 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 0 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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.