ClinVar Miner

Variants in gene CACNA1C

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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
14 16 561 519 285 17 1222

Condition and significance breakdown #

Total conditions: 43
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Long QT syndrome 4 1 285 194 201 0 683
not provided 8 5 200 148 76 1 421
Timothy syndrome 5 3 117 95 18 0 235
Brugada syndrome 0 0 101 96 18 6 219
not specified 0 0 19 112 85 0 209
Cardiovascular phenotype 0 0 40 70 25 0 135
History of neurodevelopmental disorder 0 0 14 29 24 0 67
Timothy syndrome; Brugada syndrome 3 0 0 10 0 0 0 10
See cases 1 0 6 1 0 0 8
Cardiac arrhythmia 0 2 1 0 3 0 6
Long QT syndrome 8 0 0 0 0 0 6 6
Inborn genetic diseases 1 1 2 0 0 0 4
Brugada syndrome 3 2 0 1 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
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
CACNA1C-related condition 0 1 0 0 0 0 1
Cardiomyopathy 0 0 1 0 0 0 1
Catecholaminergic polymorphic ventricular tachycardia 0 0 1 0 0 0 1
Congestive heart failure 0 0 0 1 0 0 1
Dilated cardiomyopathy 0 0 1 0 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
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; Sudden cardiac death 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
short QT syndrome 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 42
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 4 0 281 294 206 0 785
GeneDx 9 1 109 128 120 0 367
Illumina Clinical Services Laboratory,Illumina 0 0 98 96 17 0 211
Ambry Genetics 1 1 53 84 25 0 163
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 1 71 3 22 0 97
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 25 11 0 0 38
Integrated Genetics/Laboratory Corporation of America 0 2 3 10 19 0 34
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 12 5 7 0 24
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 3 3 14 0 20
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 2 16 0 0 0 19
PreventionGenetics,PreventionGenetics 0 0 0 5 11 0 16
Blueprint Genetics 1 2 8 1 0 0 12
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 0 5 4 2 0 11
OMIM 4 0 0 0 0 6 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
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 0 4 1 0 0 5
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
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics, Cincinnati Children's Hospital Medical Center 0 0 0 0 3 0 3
Lineagen, Inc 0 0 2 0 0 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 1 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 2 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 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 of Molecular Genetics,CHU RENNES 0 0 1 0 0 0 1
Undiagnosed Diseases Network,NIH 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1

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