ClinVar Miner

Variants in gene CACNA1C

Minimum submission review status: Collection method:
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Gene type:
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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 not provided total
19 20 653 545 289 11 1352

Condition and significance breakdown #

Total conditions: 51
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Long QT syndrome 6 1 463 327 202 0 997
not provided 8 6 204 153 74 1 428
not specified 0 0 24 118 98 0 230
Cardiovascular phenotype 0 0 39 71 25 0 135
History of neurodevelopmental disorder 0 0 14 29 24 0 67
Timothy syndrome 5 3 32 3 3 0 46
none provided 0 1 3 5 18 0 27
Brugada syndrome 0 0 11 4 3 6 24
Timothy syndrome; Brugada syndrome 3 0 1 10 0 0 0 11
See cases 1 0 6 1 0 0 8
Long QT syndrome 8 6 0 1 0 0 0 7
Brugada syndrome 3 2 0 3 0 0 0 5
Cardiac arrhythmia 0 2 1 0 2 0 5
Inborn genetic diseases 1 1 3 0 0 0 5
Intellectual disability 0 0 3 0 0 0 3
Ventricular tachycardia 0 0 3 0 0 0 3
Brugada syndrome (shorter-than-normal QT interval) 0 0 1 1 0 0 2
CACNA1C-related condition 0 1 1 0 0 0 2
Congenital long QT syndrome 0 0 0 0 0 2 2
Hypertrophic cardiomyopathy 0 0 0 1 1 0 2
Sudden cardiac death 0 0 2 0 0 0 2
Wolff-Parkinson-White pattern 0 0 2 0 0 0 2
Amyloidosis 0 0 0 1 0 0 1
Arrhythmogenic right ventricular cardiomyopathy 0 0 0 1 0 0 1
CACNA1C-Related Disorder 0 0 0 0 0 1 1
CACNA1C-Related Disorders 1 0 0 0 0 0 1
Cardiomyopathy 0 0 1 0 0 0 1
Catecholaminergic polymorphic ventricular tachycardia 0 0 1 0 0 0 1
Concentric hypertrophic cardiomyopathy 0 0 1 0 0 0 1
Conduction disorder of the heart 0 1 0 0 0 0 1
Congestive heart failure 0 0 0 1 0 0 1
Ductal breast carcinoma 0 0 1 0 0 0 1
Epilepsy; intellectual deficiency 0 0 1 0 0 0 1
Esophageal atresia; Pyloric stenosis 0 0 1 0 0 0 1
Familial hypertrophic cardiomyopathy 1 0 1 0 0 0 0 1
Gestational diabetes mellitus uncontrolled 0 0 0 0 0 1 1
Large for gestational age 0 0 0 0 0 1 1
Long QT syndrome 1 0 0 1 0 0 0 1
Neurodevelopmental abnormality 0 0 0 1 0 0 1
Normal pregnancy 0 0 0 0 0 1 1
Paroxysmal familial ventricular fibrillation 1 0 1 0 0 0 0 1
Preeclampsia 0 0 0 0 0 1 1
Primary dilated cardiomyopathy 0 0 1 0 0 0 1
Primary dilated cardiomyopathy; Sudden cardiac death 0 0 1 0 0 0 1
Pulmonic stenosis (disease); Intellectual disability 0 0 1 0 0 0 1
Restrictive cardiomyopathy; Long QT syndrome 0 0 1 0 0 0 1
Schizophrenia 0 1 0 0 0 0 1
Short QT Syndrome 4 0 0 1 0 0 0 1
Sudden unexplained death 0 0 1 0 0 0 1
Timothy syndrome; Brugada syndrome 3; Long QT syndrome 8 0 0 1 0 0 0 1
short QT syndrome 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 51
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 6 0 460 382 206 0 1054
GeneDx 9 1 109 128 120 0 367
Ambry Genetics 1 1 53 85 25 0 164
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 1 71 3 22 0 97
Integrated Genetics/Laboratory Corporation of America 0 2 8 16 33 0 59
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 28 14 0 0 44
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 1 6 8 22 0 37
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 12 5 7 0 24
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 2 17 0 0 0 20
PreventionGenetics, PreventionGenetics 0 0 0 5 11 0 16
Blueprint Genetics 1 2 8 1 0 0 12
Illumina Clinical Services Laboratory,Illumina 0 0 7 3 2 0 12
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 2 3 1 5 0 11
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 0 5 4 2 0 11
OMIM 10 0 0 0 0 0 10
Fulgent Genetics,Fulgent Genetics 0 0 10 0 0 0 10
Stanford Center for Inherited Cardiovascular Disease, Stanford University 1 1 7 0 0 0 9
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust 0 0 0 0 0 8 8
Mendelics 0 1 5 0 1 0 7
ISCA site 1 0 0 6 1 0 0 7
GeneReviews 6 0 0 0 0 0 6
CSER _CC_NCGL, University of Washington 0 0 3 2 0 0 5
Baylor Genetics 0 0 4 0 0 0 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 3 0 1 0 4
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 1 3 0 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 4 0 0 0 4
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 3 0 3
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 2 1 0 0 3
Diagnostic Laboratory, Strasbourg University Hospital 0 0 3 0 0 0 3
Lineagen, Inc 0 0 2 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 2 0 0 0 2
Undiagnosed Diseases Network,NIH 0 1 1 0 0 0 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 2 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
New York Genome Center 0 0 2 0 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 1 0 0 0 1
Clinical Genetics laboratory, University of Goettingen 0 0 1 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
Department of Psychiatry,Nagoya University 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Institute of Molecular and Cell Biology, University of Tartu 0 0 0 0 0 1 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Next Generation Diagnostics,Novartis Institutes for BioMedical Research, Inc. 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
Clinical Genetics, Erasmus University Medical Center 0 0 1 0 0 0 1
Laboratory Genomica,Gynecology and Assisted Reproduction Hospital Malinov DM 0 0 1 0 0 0 1
Laboratory of Molecular Genetics,CHU RENNES 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 1 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 0 1 0 0 1

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