ClinVar Miner

Variants in gene PRKAG2

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Gene type:
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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
15 9 215 173 43 1 401

Condition and significance breakdown #

Total conditions: 20
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 4 2 62 80 33 0 174
Glycogen storage disease of heart, lethal congenital 5 0 127 24 1 0 156
not specified 0 0 48 87 26 1 149
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome 0 0 50 15 0 0 65
Wolff-Parkinson-White syndrome 0 0 50 15 0 0 65
Cardiomyopathy 1 2 21 25 12 0 58
Cardiovascular phenotype 1 0 11 14 8 0 34
Hypertrophic cardiomyopathy 4 6 4 0 0 0 14
Familial hypertrophic cardiomyopathy 6 9 0 2 0 0 0 11
Primary familial hypertrophic cardiomyopathy 1 0 10 0 0 0 11
Wolff-Parkinson-White pattern 2 0 2 0 0 0 4
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 cardiomyopathy, type 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
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
Webbed neck; Coronary artery disease; Left ventricular hypertrophy; Ventricular tachycardia; Hypertension; 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: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 4 0 79 79 16 0 178
GeneDx 4 2 48 65 24 0 143
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 2 5 36 32 12 1 88
Illumina Clinical Services Laboratory,Illumina 0 0 51 15 0 0 66
Color 0 0 8 20 10 0 38
Ambry Genetics 1 0 11 14 8 0 34
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 1 0 15 6 7 0 29
Stanford Center for Inherited Cardiovascular Disease, Stanford University 1 0 15 0 0 0 16
Integrated Genetics/Laboratory Corporation of America 0 2 4 4 5 0 15
PreventionGenetics,PreventionGenetics 0 0 0 3 10 0 13
OMIM 12 0 0 0 0 0 12
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 7 5 0 0 12
Blueprint Genetics 1 0 10 0 0 0 11
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 3 1 4 0 8
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 2 0 5 0 7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 1 3 0 5
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 1 0 3 1 0 0 5
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 0 3 0 0 0 3
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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 2 0 0 0 2
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
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
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
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 1 0 0 1

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