ClinVar Miner

Variants in gene PRKAG2

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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
17 9 369 242 55 1 605

Condition and significance breakdown #

Total conditions: 26
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Glycogen storage disease of heart, lethal congenital 7 1 185 83 16 0 291
Cardiomyopathy 1 2 128 125 20 0 261
not specified 0 0 52 89 30 1 153
not provided 4 2 65 52 19 0 140
Familial hypertrophic cardiomyopathy 6 9 0 62 12 8 0 91
Wolff-Parkinson-White pattern 2 0 62 12 10 0 85
Cardiovascular phenotype 1 0 11 14 8 0 34
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome 0 0 21 2 0 0 23
Wolff-Parkinson-White syndrome 0 0 21 2 0 0 23
Hypertrophic cardiomyopathy 4 6 6 0 0 0 16
Primary familial hypertrophic cardiomyopathy 1 0 10 0 0 0 11
none provided 0 0 0 0 8 0 8
Familial hypertrophic cardiomyopathy 1 0 0 2 0 0 0 2
Glycogen storage disease of heart, lethal congenital; Familial hypertrophic cardiomyopathy 6; Wolff-Parkinson-White pattern 0 0 2 0 0 0 2
Arrhythmogenic right ventricular dysplasia 9 0 0 1 0 0 0 1
Congestive heart failure 0 0 1 0 0 0 1
Heart failure 0 0 0 1 0 0 1
Inborn genetic diseases 0 0 1 0 0 0 1
Left ventricular hypertrophy 0 0 1 0 0 0 1
PRKAG2 cardiac syndrome 0 0 0 1 0 0 1
PRKAG2-Related Disorders 0 0 1 0 0 0 1
Primary dilated cardiomyopathy 0 0 1 0 0 0 1
Renal cysts and diabetes syndrome 0 0 0 0 1 0 1
See cases 0 0 1 0 0 0 1
Webbed neck; Coronary artery disease; Left ventricular hypertrophy; Ventricular tachycardia; Hypertensive disorder; Stroke 0 0 1 0 0 0 1
Wolff-Parkinson-White syndrome, childhood-onset 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 6 1 167 102 16 0 292
Color Health, Inc 0 0 112 120 14 0 246
GeneDx 4 2 48 65 24 0 143
Illumina Clinical Services Laboratory,Illumina 0 0 81 16 10 0 103
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 5 36 32 12 1 88
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 1 0 21 8 16 0 46
Ambry Genetics 1 0 12 14 8 0 35
Integrated Genetics/Laboratory Corporation of America 0 2 9 5 10 0 26
Stanford Center for Inherited Cardiovascular Disease, Stanford University 1 0 15 0 0 0 16
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 9 7 0 0 16
PreventionGenetics, PreventionGenetics 0 0 0 3 10 0 13
OMIM 12 0 0 0 0 0 12
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 1 9 0 11
Blueprint Genetics 1 0 10 0 0 0 11
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 1 0 5 4 0 0 10
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 3 1 4 0 8
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 5 0 7
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 5 0 0 0 6
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 0 4 0 0 0 4
Center for Human Genetics,University of Leuven 2 1 0 0 0 0 3
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 1 0 1 1 0 0 3
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 2 0 0 0 2
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
CSER _CC_NCGL, University of Washington 0 0 0 1 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 0 0 0 1
Oxford Medical Genetics Laboratories,Oxford University Hospitals NHS Foundation Trust 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Institute of Molecular Biology and Genetics, Federal Almazov North-West Medical Research Centre 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 1 0 0 0 1
Erich and Hanna Klessmann Institute for Cardiovascular Research and Development,Heart and Diabetes Center North Rhine-Westphalia 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 0 0 1 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 1 0 0 1
Loeys Lab,Universiteit Antwerpen 0 0 1 0 0 0 1

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