ClinVar Miner

Variants in gene CASQ2

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Minimum submission review status: Collection method:
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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
18 17 173 82 53 305

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Catecholaminergic polymorphic ventricular tachycardia 8 5 95 28 6 142
not provided 7 7 31 31 29 102
Ventricular tachycardia, catecholaminergic polymorphic, 2 7 3 54 4 15 78
not specified 0 0 29 33 18 71
Cardiovascular phenotype 1 3 9 5 3 21
Cardiomyopathy 0 0 10 4 6 20
Catecholaminergic polymorphic ventricular tachycardia type 1; Ventricular tachycardia, catecholaminergic polymorphic, 2 0 0 3 0 0 3
Cardiac arrhythmia 0 0 0 0 1 1
Catecholaminergic polymorphic ventricular tachycardia type 1 0 1 0 0 0 1
Conduction disorder of the heart 0 0 1 0 0 1
Polymorphic ventricular tachycardia 0 0 1 0 0 1
Primary dilated cardiomyopathy 0 0 0 1 0 1
Sudden unexplained death 0 0 0 1 0 1
Wolff-Parkinson-White syndrome 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 8 3 83 35 7 136
GeneDx 6 7 22 34 36 105
Illumina Clinical Services Laboratory,Illumina 0 0 59 3 5 67
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 2 22 16 6 46
Ambry Genetics 1 3 9 5 3 21
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 0 10 3 6 19
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 9 0 3 12
Integrated Genetics/Laboratory Corporation of America 0 0 4 1 7 12
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 1 2 8 11
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 5 0 2 7
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 0 7 7
PreventionGenetics, PreventionGenetics 0 0 0 2 4 6
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 5 1 0 6
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 2 1 2 5
GeneReviews 4 0 0 0 0 4
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 0 4 0 0 4
OMIM 3 0 0 0 0 3
Fulgent Genetics,Fulgent Genetics 0 0 3 0 0 3
Stanford Center for Inherited Cardiovascular Disease,Stanford University 1 0 2 0 0 3
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 3 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 3 3
Center for Human Genetics,University of Leuven 0 2 0 0 0 2
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 0 0 2 0 2
Baylor Genetics 1 0 0 0 0 1
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 1 0 0 0 1
Mendelics 0 1 0 0 0 1
Lineagen, Inc 0 0 1 0 0 1
Blueprint Genetics 0 1 0 0 0 1
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 0 0 1 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 0 1 1

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