ClinVar Miner

Variants in gene CACNA1E

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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
18 39 923 1370 400 17 2531

Condition and significance breakdown #

Total conditions: 24
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 10 16 763 1285 398 0 2372
Inborn genetic diseases 2 7 117 136 0 0 262
Developmental and epileptic encephalopathy, 69 9 12 102 67 75 1 259
CACNA1E-related disorder 1 1 8 38 9 0 57
not specified 0 0 12 10 23 0 44
Developmental and epileptic encephalopathy 0 13 2 1 1 0 17
Ovarian serous cystadenocarcinoma 0 0 0 0 0 5 5
Lung cancer 0 0 0 0 0 3 3
See cases 0 0 3 0 0 0 3
Acute myeloid leukemia 0 0 0 0 0 2 2
Gastric cancer 0 0 0 0 0 2 2
Genetic developmental and epileptic encephalopathy 0 0 2 0 0 0 2
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 2 2
Uterine corpus endometrial carcinoma 0 0 0 0 0 2 2
Cervical cancer 0 0 0 0 0 1 1
Developmental and epileptic encephalopathy, 14 0 0 0 0 0 1 1
Developmental disorder 0 0 1 0 0 0 1
Episodic coma 0 1 0 0 0 0 1
Intellectual disability 0 0 0 1 0 0 1
Malignant tumor of urinary bladder 0 0 0 0 0 1 1
Sarcoma 0 0 0 0 0 1 1
Uterine carcinosarcoma 0 0 0 0 0 1 1
Van der Woude syndrome 1 1 0 0 0 0 0 1
Wolff-Parkinson-White pattern 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 66
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 5 7 522 1152 277 0 1963
GeneDx 6 7 228 118 178 0 537
Ambry Genetics 2 7 117 136 0 0 262
Genome-Nilou Lab 0 3 30 62 74 0 169
CeGaT Center for Human Genetics Tuebingen 1 0 45 73 10 0 129
Breakthrough Genomics, Breakthrough Genomics 0 0 1 50 62 0 113
PreventionGenetics, part of Exact Sciences 1 1 8 38 9 0 57
Mayo Clinic Laboratories, Mayo Clinic 0 0 4 6 20 0 30
Revvity Omics, Revvity 0 0 19 0 0 0 19
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 3 2 10 0 15
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 15 15
New York Genome Center 0 0 14 0 0 0 14
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 11 3 0 0 14
Yale Center for Mendelian Genomics, Yale University 0 13 0 0 0 0 13
Fulgent Genetics, Fulgent Genetics 1 0 2 5 1 0 9
Neuberg Centre For Genomic Medicine, NCGM 0 0 9 0 0 0 9
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 4 2 0 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 5 0 0 0 7
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 1 2 0 6
Institute of Human Genetics, University of Leipzig Medical Center 2 0 4 0 0 0 6
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 5 1 0 6
MVZ Medizinische Genetik Mainz 0 1 5 0 0 0 6
OMIM 6 0 0 0 0 0 6
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 3 0 0 0 5
3billion 1 1 2 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 4 0 0 0 4
Mendelics 2 0 1 0 1 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 3 0 0 0 3
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 2 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 0 2
Centre of Medical Genetics, University Hospital Muenster 0 0 2 0 0 0 2
Illumina Laboratory Services, Illumina 1 1 0 0 0 0 2
Institute of Human Genetics Munich, TUM University Hospital 1 1 0 0 0 0 2
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 0 2 0 0 0 2
Undiagnosed Diseases Network, NIH 1 0 1 0 0 0 2
Acibadem Labgen Genetic Diagnostic Center 1 0 0 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 0 1 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 0 1 0 0 1
Centre for Clinical Genetics and Genomic Diagnostics, Zealand University Hospital 0 0 1 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 1 0 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 0 0 1
Dr Goodarzi Genetics and Genomics Lab 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 1 0 0 0 0 1
Imagene.me medical diagnostic laboratory, IMAGENE.ME SA 1 0 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 1
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 0 0 1 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1

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