ClinVar Miner

Variants in gene combination CACNB2, NSUN6

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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 3 164 96 37 259

Condition and significance breakdown #

Total conditions: 19
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Brugada syndrome 4 1 0 65 31 19 114
Brugada syndrome 0 0 61 22 0 83
not provided 0 3 30 25 18 74
not specified 0 0 11 25 15 48
Cardiovascular phenotype 0 0 17 11 8 36
Cardiac arrest 0 0 3 0 0 3
Cardiomyopathy 0 0 1 2 0 3
Cardiac arrhythmia 0 0 0 1 0 1
Cardiac conduction defect, nonspecific 0 0 1 0 0 1
Cardiomyopathy; Hypertrophic cardiomyopathy; Supraventricular tachycardia; Ventricular tachycardia; Dilated cardiomyopathy 0 0 0 0 1 1
Long QT syndrome 0 0 1 0 0 1
Primary dilated cardiomyopathy 0 0 1 0 0 1
See cases 0 0 1 0 0 1
Short QT Syndrome 5 0 0 1 0 0 1
Sudden unexplained death 0 0 1 0 0 1
Tachycardia 0 0 1 0 0 1
Ventricular arrhythmia; Noncompaction cardiomyopathy 0 0 1 0 0 1
Ventricular fibrillation 0 0 1 0 0 1
Ventricular tachycardia 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 0 0 64 43 19 126
Illumina Clinical Services Laboratory,Illumina 0 0 55 22 0 77
GeneDx 0 3 19 32 16 70
Ambry Genetics 0 0 17 11 8 36
Integrated Genetics/Laboratory Corporation of America 0 0 2 2 9 13
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 7 2 3 12
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 2 6 8
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 0 7 0 0 7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 2 3 6
Blueprint Genetics 0 0 6 0 0 6
PreventionGenetics,PreventionGenetics 0 0 0 0 5 5
CSER _CC_NCGL, University of Washington 0 0 5 0 0 5
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 5 0 0 5
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 0 0 3 1 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 3 0 0 3
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 0 0 2 2
OMIM 1 0 0 0 0 1
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 1 0 0 1
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics, Cincinnati Children's Hospital Medical Center 0 0 0 0 1 1
Lineagen, Inc 0 0 1 0 0 1
GeneReviews 1 0 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 1
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 0 1 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 1 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 1 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 1
Center for Human Genetics,University of Leuven 0 0 1 0 0 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 1 1

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