ClinVar Miner

Variants in gene CASQ2

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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 not provided total
57 46 333 357 74 4 782

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Catecholaminergic polymorphic ventricular tachycardia 1 44 15 166 264 20 0 508
Cardiovascular phenotype 8 13 153 70 4 0 246
Catecholaminergic polymorphic ventricular tachycardia 2 8 27 129 34 26 4 216
not provided 9 8 59 53 51 0 171
not specified 0 0 38 36 21 0 80
Catecholaminergic polymorphic ventricular tachycardia 1; Catecholaminergic polymorphic ventricular tachycardia 2 2 4 43 3 2 1 55
Cardiomyopathy 0 0 14 6 9 0 28
Catecholaminergic polymorphic ventricular tachycardia 2 4 16 3 0 0 25
CASQ2-related disorder 0 0 1 4 1 0 6
Long QT syndrome 0 1 1 0 0 0 2
Cardiac arrhythmia 0 0 0 0 1 0 1
Conduction disorder of the heart 0 0 1 0 0 0 1
Polymorphic ventricular tachycardia 0 0 1 0 0 0 1
Primary dilated cardiomyopathy 0 0 0 1 0 0 1
Progressive familial heart block 0 0 1 0 0 0 1
Sudden unexplained death 0 0 0 1 0 0 1
Wolff-Parkinson-White pattern 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 56
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 45 14 168 266 21 0 514
Ambry Genetics 8 13 151 70 4 0 246
GeneDx 8 7 41 51 56 0 163
Genome-Nilou Lab 1 16 87 32 21 0 157
Illumina Laboratory Services, Illumina 0 0 59 3 5 0 67
Fulgent Genetics, Fulgent Genetics 3 15 42 3 2 0 65
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 2 22 16 6 0 46
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 16 8 8 0 34
Breakthrough Genomics, Breakthrough Genomics 0 0 7 6 19 0 32
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 0 14 5 9 0 28
Clinical Genetics, Academic Medical Center 0 0 4 1 13 0 18
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 6 9 0 16
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 2 4 9 0 15
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 0 8 3 3 0 14
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 3 4 6 0 13
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 9 0 3 0 12
PreventionGenetics, part of Exact Sciences 0 0 1 6 5 0 12
CeGaT Center for Human Genetics Tuebingen 0 1 2 7 1 0 11
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 5 1 3 0 9
Revvity Omics, Revvity 0 2 5 0 0 0 7
Eurofins Ntd Llc (ga) 0 0 2 1 2 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 3 0 0 0 5
GeneReviews 0 0 0 0 0 4 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 4 0 4
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 4 0 0 4
OMIM 3 0 0 0 0 0 3
Stanford Center for Inherited Cardiovascular Disease, Stanford University 1 0 2 0 0 0 3
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 3 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 2 0 0 0 3
Clinical Genomics Laboratory, Stanford Medicine 0 0 3 0 0 0 3
New York Genome Center 0 0 3 0 0 0 3
Cohesion Phenomics 0 0 0 3 0 0 3
Baylor Genetics 1 0 1 0 0 0 2
Center for Human Genetics, University of Leuven 0 2 0 0 0 0 2
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 0 0 0 2 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 0 2 0 2
AiLife Diagnostics, AiLife Diagnostics 1 0 1 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 0 1 0 0 0 2
Dept of Medical Biology, Uskudar University 0 1 1 0 0 0 2
Lildballe Lab, Aarhus University Hospital 0 2 0 0 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 1 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 0 1
Mendelics 0 1 0 0 0 0 1
Bionano Laboratories 0 0 1 0 0 0 1
Blueprint Genetics 0 1 0 0 0 0 1
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 0 0 0 1 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 0 1 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 1 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 0 0 0 0 1
Suma Genomics 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1

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