ClinVar Miner

Variants in gene combination CACNB2, NSUN6

See also:
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 3 133 67 23 192

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Brugada syndrome 0 0 61 22 0 83
Brugada syndrome 4 1 0 33 21 15 69
not specified 0 0 10 24 13 44
Cardiovascular phenotype 0 0 19 9 8 36
not provided 0 3 24 3 7 35
Cardiac arrest 0 0 3 0 0 3
Cardiac arrhythmia 0 0 0 1 0 1
Cardiac conduction defect, nonspecific 0 0 1 0 0 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
Ventricular fibrillation 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 55 22 0 77
Invitae 0 0 31 20 14 65
GeneDx 0 3 19 25 6 53
Ambry Genetics 0 0 19 9 8 36
Biesecker Lab/Human Development Section,National Institutes of Health 0 0 7 2 3 12
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 2 6 8
Integrated Genetics/Laboratory Corporation of America 0 0 1 1 6 8
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 7 0 0 7
Blueprint Genetics, 0 0 6 0 0 6
PreventionGenetics 0 0 0 0 5 5
CSER_CC_NCGL; University of Washington Medical Center 0 0 5 0 0 5
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 0 1 2
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
GeneReviews 1 0 0 0 0 1
Fulgent Genetics 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
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 1

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