ClinVar Miner

Variants in gene CACNA1C

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Minimum submission review status: Collection method:
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Gene type:

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
61 84 1715 1909 445 65 3754

Condition and significance breakdown #

Total conditions: 87
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Long QT syndrome 15 4 1096 1562 250 0 2922
not provided 28 32 556 278 249 1 1049
Cardiovascular phenotype 14 9 363 588 62 0 1028
not specified 0 0 41 178 138 0 321
CACNA1C-related disorder 1 6 42 65 6 1 121
Timothy syndrome; Brugada syndrome 3; Long QT syndrome 8 0 2 74 19 3 0 98
Timothy syndrome 14 10 40 3 30 6 94
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures 8 18 21 0 0 0 47
Long QT syndrome 8 9 2 23 0 0 0 34
Timothy syndrome; Brugada syndrome 3; Long QT syndrome 8; Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures 1 2 15 1 0 0 19
Brugada syndrome 0 0 5 1 1 6 13
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 11 11
Brugada syndrome 3 2 0 8 0 0 2 10
See cases 0 0 8 1 0 0 9
Uterine corpus endometrial carcinoma 0 0 0 0 0 9 9
Acute myeloid leukemia 0 0 0 0 0 7 7
Sarcoma 0 0 0 0 0 7 7
Timothy syndrome; Brugada syndrome 3 0 1 6 0 0 0 7
Cardiac arrhythmia 2 1 1 0 2 0 6
Ovarian serous cystadenocarcinoma 0 0 0 0 0 6 6
Cervical cancer 0 0 0 0 0 5 5
Familial cancer of breast 0 0 0 0 0 5 5
Intellectual disability 0 1 3 0 1 0 5
Malignant tumor of esophagus 0 0 0 0 0 5 5
Inborn genetic diseases 1 0 3 0 0 0 4
Lung cancer 0 0 0 0 0 4 4
Uterine carcinosarcoma 0 0 0 0 0 4 4
Congenital long QT syndrome 0 0 1 0 0 2 3
Hypertrophic cardiomyopathy 0 0 1 1 1 0 3
Thymoma 0 0 0 0 0 3 3
Timothy syndrome; Long QT syndrome 8; Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures 0 0 3 0 0 0 3
Ventricular tachycardia 0 0 3 0 0 0 3
Autism spectrum disorder 0 0 0 2 0 0 2
Brugada syndrome (shorter-than-normal QT interval) 0 0 1 1 0 0 2
Developmental and epileptic encephalopathy, 42 0 0 2 0 0 0 2
Neurodevelopmental abnormality 0 0 1 1 0 0 2
Neurodevelopmental delay 0 2 0 0 0 0 2
Primary dilated cardiomyopathy 0 0 2 0 0 0 2
Sudden cardiac death 0 0 2 0 0 0 2
Timothy syndrome; arrhythmogenic disorders 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
Breast ductal adenocarcinoma 0 0 1 0 0 0 1
Brugada syndrome 3; Long QT syndrome 8 0 0 1 0 0 0 1
Cardiomyopathy 0 0 1 0 0 0 1
Catecholaminergic polymorphic ventricular tachycardia 0 0 1 0 0 0 1
Cerebral palsy 0 1 0 0 0 0 1
Cholangiocarcinoma 0 0 0 0 0 1 1
Clear cell carcinoma of kidney 0 0 0 0 0 1 1
Colon adenocarcinoma 0 0 0 0 0 1 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
Epilepsy 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 prostate cancer 0 0 0 0 0 1 1
Gastric cancer 0 0 0 0 0 1 1
Gestational diabetes mellitus uncontrolled 0 0 0 0 0 1 1
Hepatocellular carcinoma 0 0 0 0 0 1 1
Hypertrophic cardiomyopathy 1 0 1 0 0 0 0 1
Hypotonia 0 1 0 0 0 0 1
Large for gestational age 0 0 0 0 0 1 1
Lymphoma 0 0 0 0 0 1 1
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 1 1
Melanoma 0 0 0 0 0 1 1
Motor delay; Expressive language delay; Joint laxity; Intention tremor; Delayed fine motor development 0 1 0 0 0 0 1
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 0 1 0 0 0 0 1
Nonpapillary renal cell carcinoma 0 0 0 0 0 1 1
Normal pregnancy 0 0 0 0 0 1 1
Pancreatic adenocarcinoma 0 0 0 0 0 1 1
Post-traumatic stress disorder 0 0 1 0 0 0 1
Preeclampsia 0 0 0 0 0 1 1
Restrictive cardiomyopathy; Long QT syndrome 0 0 1 0 0 0 1
Seizure 0 1 0 0 0 0 1
Short QT Syndrome 4 0 0 1 0 0 0 1
Short QT syndrome 0 0 0 1 0 0 1
Squamous cell lung carcinoma 0 0 0 0 0 1 1
Sudden unexplained death 0 0 1 0 0 0 1
Timothy syndrome type 1 0 0 1 0 0 0 1
Timothy syndrome; Long QT syndrome 0 1 0 0 0 0 1
Timothy syndrome; Long QT syndrome 8 0 0 0 0 0 1 1
Timothy syndrome; Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures 0 1 0 0 0 0 1
Timothy syndrome; QT prolongation and arrhythmias in the absence of other syndromic features; arrhythmogenic disorders; short QT interval with or without a Brugada syndrome ECG pattern 0 0 1 0 0 0 1
Timothy syndrome; Short QT syndrome 0 0 0 0 0 1 1
Ventricular fibrillation, paroxysmal familial, type 1 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 112
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 15 3 1091 1566 252 0 2927
Ambry Genetics 12 8 348 588 62 0 1018
GeneDx 28 22 385 202 271 0 908
CeGaT Center for Human Genetics Tuebingen 0 3 41 96 8 0 148
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 1 24 46 66 0 139
Breakthrough Genomics, Breakthrough Genomics 0 0 4 45 86 0 135
PreventionGenetics, part of Exact Sciences 0 2 38 69 17 0 126
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 3 3 25 63 30 0 124
Fulgent Genetics, Fulgent Genetics 0 2 81 19 3 0 105
Eurofins Ntd Llc (ga) 0 1 71 3 22 0 97
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 2 15 36 36 0 89
Mayo Clinic Laboratories, Mayo Clinic 1 0 20 16 23 0 60
Clinical Genetics, Academic Medical Center 1 0 8 4 37 0 50
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 49 49
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 1 3 17 17 0 40
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 4 18 1 0 0 27
Genome-Nilou Lab 0 0 0 0 26 0 26
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 12 5 7 0 24
MVZ Martinsried, Medicover Genetics 1 2 18 0 0 0 21
Revvity Omics, Revvity 0 1 19 1 0 0 21
AiLife Diagnostics, AiLife Diagnostics 0 0 20 0 0 0 20
OMIM 19 0 1 0 0 0 20
3billion 3 3 10 0 0 0 16
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 3 11 2 0 16
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 1 3 4 4 0 13
Blueprint Genetics 1 2 8 1 0 0 12
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 5 6 1 0 12
Mendelics 3 1 5 0 3 0 12
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 0 0 5 4 2 0 11
New York Genome Center 0 0 11 0 0 0 11
Clinical Genetics Laboratory, Skane University Hospital Lund 1 2 6 0 0 0 9
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 3 2 4 0 9
Neuberg Centre For Genomic Medicine, NCGM 0 0 9 0 0 0 9
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
GeneReviews 0 0 0 0 0 8 8
Baylor Genetics 2 0 5 0 0 0 7
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 5 1 0 0 7
Genetics and Molecular Pathology, SA Pathology 0 1 4 0 1 0 6
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 4 0 0 0 6
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 6 0 0 0 6
CSER _CC_NCGL, University of Washington 0 0 3 2 0 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 1 2 0 0 5
Juno Genomics, Hangzhou Juno Genomics, Inc 0 3 2 0 0 0 5
KardioGenetik, Herz- und Diabeteszentrum NRW 0 0 5 0 0 0 5
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
Clinical Genomics Laboratory, Stanford Medicine 0 0 4 0 0 0 4
ISCA site 1 0 0 3 1 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 0 3 1 0 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 3 0 1 0 4
MVZ Medizinische Genetik Mainz 0 3 1 0 0 0 4
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 3 1 0 0 4
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 2 0 1 0 3
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 0 3 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 0 0 0 3
Dept of Medical Biology, Uskudar University 0 2 1 0 0 0 3
Diagnostic Laboratory, Strasbourg University Hospital 0 1 2 0 0 0 3
Institute of Human Genetics, University of Goettingen 0 1 2 0 0 0 3
MGZ Medical Genetics Center 0 0 3 0 0 0 3
Pediatric Department, Xiangya Hospital, Central South University 0 2 1 0 0 0 3
Bionano Laboratories 0 0 2 0 0 0 2
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 1 1 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 2 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 1 1 0 0 0 0 2
Curation Department, Healx 0 2 0 0 0 0 2
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 2 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Illumina Laboratory Services, Illumina 0 0 2 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 2 0 0 0 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 1 0 1 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 2 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 0 2
Undiagnosed Diseases Network, NIH 0 1 1 0 0 0 2
Bristol Genetics Laboratory, North Bristol NHS Trust 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 0 1 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 0 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 0 1 0 0 0 0 1
Clinical Genetics, Erasmus University Medical Center 0 0 1 0 0 0 1
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 1
Dasa 0 0 1 0 0 0 1
Department of Behavioral Medicine, National Institute of Mental Health, National Center of Neurology and Psychiatry 0 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 1
Department of Paediatrics at Addenbrookes, Cambridge University Hospitals NHS Foundation Trust (UK) 0 0 1 0 0 0 1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 1 0 0 0 0 1
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 0 1 0 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 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
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 1 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 1
Institute of Medical Genetics, ASUI Udine 0 1 0 0 0 0 1
Institute of Molecular and Cell Biology, University of Tartu 0 0 0 0 0 1 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Laboratoire Génétique Moléculaire, CHRU TOURS 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
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1
Neurogenetics Research Program, University of Adelaide 0 1 0 0 0 0 1
Next Generation Diagnostics, Novartis Institutes for BioMedical Research, Inc. 0 0 1 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
Variantyx, Inc. 1 0 0 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 0 1 0 0 0 0 1

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