ClinVar Miner

Variants in gene CASQ2

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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 total
14 14 109 63 47 222

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Catecholaminergic polymorphic ventricular tachycardia 4 3 71 17 8 100
not provided 7 7 27 17 28 84
not specified 0 0 29 32 14 67
Ventricular tachycardia, catecholaminergic polymorphic, 2 6 2 5 2 12 25
Cardiovascular phenotype 1 3 11 3 3 21
Cardiomyopathy 0 0 4 0 5 9
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
Ventricular tachycardia, polymorphic 0 0 1 0 0 1
Wolff-Parkinson-White syndrome 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
GeneDx 6 7 22 34 36 105
Invitae 4 1 39 13 6 63
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 2 23 15 6 46
Illumina Clinical Services Laboratory,Illumina 0 0 35 4 2 41
Ambry Genetics 1 3 11 3 3 21
Biesecker Lab/Human Development Section,National Institutes of Health 0 0 9 0 3 12
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 1 2 8 11
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 0 4 0 5 9
Integrated Genetics/Laboratory Corporation of America 0 0 4 1 2 7
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 0 7 7
PreventionGenetics 0 0 0 2 4 6
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 2 1 2 5
GeneReviews 4 0 0 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
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 0 3 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
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 2 0 0 2
Center for Human Genetics,University of Leuven 0 2 0 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 1 0 0 0 1
Blueprint Genetics, 0 1 0 0 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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