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 8 193 130 29 1 329

Condition and significance breakdown #

Total conditions: 18
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Glycogen storage disease of heart, lethal congenital 4 0 109 45 15 0 164
not specified 0 0 47 86 25 1 147
not provided 4 2 54 2 6 0 66
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 13 12 8 0 34
Primary familial hypertrophic cardiomyopathy 2 4 9 0 0 0 15
Familial hypertrophic cardiomyopathy 6 9 0 2 0 0 0 11
Hypertrophic cardiomyopathy 2 1 1 0 0 0 4
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
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: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 4 2 48 55 11 0 120
Invitae 3 0 61 30 15 0 109
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 4 36 32 12 1 87
Illumina Clinical Services Laboratory,Illumina 0 0 51 15 0 0 66
Color 0 0 8 20 10 0 38
Ambry Genetics 1 0 13 12 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 0 0 0 3 10 0 13
OMIM 12 0 0 0 0 0 12
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
Blueprint Genetics, 1 0 6 0 0 0 7
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 1 0 2 1 0 0 4
Center for Human Genetics,University of Leuven 2 1 0 0 0 0 3
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 2 0 0 0 2
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 Medical Center 0 0 0 1 0 0 1
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
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
CeGaT Praxis fuer Humangenetik Tuebingen 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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