ClinVar Miner

Variants in gene AKAP9

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Gene type:

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
1 5 2254 1458 265 71 3613

Condition and significance breakdown #

Total conditions: 54
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Cardiovascular phenotype 0 0 1264 873 79 0 2216
Long QT syndrome 0 3 1385 724 85 0 2192
not provided 0 0 117 194 158 1 425
Long QT syndrome 11 1 2 179 32 83 2 285
not specified 0 0 51 84 72 0 196
AKAP9-related disorder 0 0 17 41 6 0 64
Ovarian serous cystadenocarcinoma 0 0 0 0 0 13 13
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 10 10
Sarcoma 0 0 0 0 0 8 8
Uterine corpus endometrial carcinoma 0 0 0 0 0 8 8
Malignant tumor of esophagus 0 0 0 0 0 7 7
Cardiomyopathy 0 0 1 3 2 0 6
Cervical cancer 0 0 0 0 0 6 6
Gastric cancer 0 0 0 0 0 6 6
Long QT syndrome 1 0 0 6 0 0 0 6
Lung cancer 0 0 0 0 0 6 6
Cardiac arrest 0 0 4 0 0 0 4
Hepatocellular carcinoma 0 0 0 0 0 4 4
Cardiac arrhythmia 0 0 0 2 1 0 3
Cholangiocarcinoma 0 0 0 0 0 3 3
Familial cancer of breast 0 0 0 0 0 3 3
Hypertrophic cardiomyopathy 0 0 1 2 0 0 3
Nonpapillary renal cell carcinoma 0 0 0 0 0 3 3
Papillary renal cell carcinoma type 1 0 0 0 0 0 3 3
Primary dilated cardiomyopathy 0 0 2 0 1 0 3
Ventricular fibrillation 0 0 2 1 0 0 3
Acute myeloid leukemia 0 0 0 0 0 2 2
Clear cell carcinoma of kidney 0 0 0 0 0 2 2
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 2 2
Malignant tumor of urinary bladder 0 0 0 0 0 2 2
Ventricular tachycardia 0 0 1 1 0 0 2
Wolff-Parkinson-White pattern 0 0 2 0 0 0 2
Arrhythmogenic right ventricular cardiomyopathy 0 0 0 1 0 0 1
Atrial fibrillation; Cardiomyopathy; Heart failure; Hypertrophic cardiomyopathy 0 0 0 0 1 0 1
Brugada syndrome 0 0 1 0 0 0 1
Brugada syndrome 1 0 0 0 0 1 0 1
Cardiomyopathy; Long QT syndrome 0 0 0 0 1 0 1
Cardiomyopathy; Ventricular fibrillation 0 0 0 0 1 0 1
Catecholaminergic polymorphic ventricular tachycardia 0 0 0 1 0 0 1
Colon adenocarcinoma 0 0 0 0 0 1 1
Colorectal cancer 0 0 0 0 1 0 1
Congenital long QT syndrome 0 0 1 0 0 0 1
Glioma susceptibility 1 0 0 0 0 0 1 1
Heart failure 0 0 0 1 0 0 1
Long QT syndrome 2 0 0 1 0 0 0 1
Lymphoma 0 0 0 0 0 1 1
Ovarian cancer 0 0 0 0 0 1 1
Primary dilated cardiomyopathy; Amyloidosis 0 0 0 0 1 0 1
Restrictive cardiomyopathy 0 0 0 0 1 0 1
See cases 0 0 1 0 0 0 1
Squamous cell lung carcinoma 0 0 0 0 0 1 1
Sudden cardiac death 0 0 1 0 0 0 1
Thymoma 0 0 0 0 0 1 1
unspecified heart condition 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 55
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Ambry Genetics 0 0 1264 873 79 0 2216
Labcorp Genetics (formerly Invitae), Labcorp 0 0 1373 736 86 0 2195
GeneDx 0 0 22 116 159 0 297
Fulgent Genetics, Fulgent Genetics 0 0 139 17 7 0 163
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 42 62 56 0 160
Breakthrough Genomics, Breakthrough Genomics 0 0 5 53 32 0 90
Genome-Nilou Lab 0 0 0 0 81 0 81
PreventionGenetics, part of Exact Sciences 0 0 17 41 19 0 77
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 68 68
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 17 33 15 0 65
CeGaT Center for Human Genetics Tuebingen 0 0 19 30 16 0 65
Clinical Genetics, Academic Medical Center 0 0 4 17 38 0 59
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 25 14 0 40
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 17 10 9 0 36
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 1 16 5 0 22
Blueprint Genetics 0 1 16 2 0 0 19
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 0 12 6 1 0 19
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 0 0 0 10 8 0 18
Mayo Clinic Laboratories, Mayo Clinic 0 0 14 2 2 0 18
AiLife Diagnostics, AiLife Diagnostics 0 0 15 0 0 0 15
Dept of Medical Biology, Uskudar University 0 0 11 3 0 0 14
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 12 0 13
Eurofins Ntd Llc (ga) 0 0 3 1 9 0 13
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 12 1 0 0 13
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 2 9 1 0 12
Revvity Omics, Revvity 0 0 12 0 0 0 12
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 9 0 0 0 9
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 7 0 0 0 7
Baylor Genetics 0 0 6 0 0 0 6
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 4 0 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 2 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 3 0 3
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 0 0 0 0 2 0 2
Center for Human Genetics, University of Leuven 0 0 2 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 0 2
Clinical Genomics Laboratory, Stanford Medicine 0 0 2 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 2 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 2 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 2 0 0 0 2
MGZ Medical Genetics Center 0 0 2 0 0 0 2
Medical Research Institute, Tokyo Medical and Dental University 0 2 0 0 0 0 2
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 0 2 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Clinical Center for Gene Diagnosis and Therapy, Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University 0 0 1 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 0 0 1 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 1 0 0 0 0 1
ISCA site 1 0 0 1 0 0 0 1
MVZ Martinsried, Medicover Genetics 0 0 1 0 0 0 1
OMIM 1 0 0 0 0 0 1
Phosphorus, Inc. 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1

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