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 13 475 348 127 10 846

Condition and significance breakdown #

Total conditions: 32
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Long QT syndrome 2 1 190 137 55 0 384
Timothy syndrome 5 1 109 95 17 0 226
Brugada syndrome 0 0 100 96 17 6 218
not provided 8 4 182 8 18 1 214
not specified 0 0 21 106 81 0 204
Cardiovascular phenotype 0 0 44 66 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 6 0 0 0 0 0 6
Inborn genetic diseases 1 1 2 0 0 0 4
Brugada syndrome 3 2 0 1 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
Sudden cardiac death 0 0 2 0 0 0 2
Wolff-Parkinson-White pattern 0 0 2 0 0 0 2
CACNA1C-related condition 0 1 0 0 0 0 1
Ductal breast carcinoma 0 0 1 0 0 0 1
Epilepsy; intellectual deficiency 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
Ventricular tachycardia 0 0 1 0 0 0 1
short QT syndrome 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 2 0 186 137 55 0 380
GeneDx 9 1 109 97 64 0 280
Illumina Clinical Services Laboratory,Illumina 0 0 98 96 17 0 211
Ambry Genetics 1 1 56 80 25 0 163
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 1 71 3 22 0 97
Integrated Genetics/Laboratory Corporation of America 0 2 8 5 19 0 34
Biesecker Lab/Human Development Section,National Institutes of Health 0 0 12 5 7 0 24
PreventionGenetics 0 0 0 5 11 0 16
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 1 13 0 0 0 15
Blueprint Genetics, 1 2 8 1 0 0 12
OMIM 10 0 0 0 0 0 10
Fulgent Genetics 0 0 10 0 0 0 10
Stanford Center for Inherited Cardiovascular Disease,Stanford University 1 1 7 0 0 0 9
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 2 2 4 0 8
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust 0 0 0 0 0 8 8
ISCA site 1 0 0 6 1 0 0 7
GeneReviews 6 0 0 0 0 0 6
CSER_CC_NCGL; University of Washington Medical Center 0 0 3 2 0 0 5
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 4 0 0 0 4
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 0 2 1 0 0 3
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 1 1 0 0 2
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 1 1 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 0 2 0 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 0 0 0 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,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
Laboratory of Molecular Genetics,CHU RENNES 0 0 1 0 0 0 1
Undiagnosed Diseases Network,NIH 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1

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