ClinVar Miner

Variants studied for CACNA1A-related complex neurodevelopmental disorder

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
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
299 213 1272 1454 141 60 3277

Gene and significance breakdown #

Total genes and gene combinations: 18
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CACNA1A 274 200 1181 1352 134 57 3046
CACNA1A, LOC130063717 0 0 36 27 0 0 61
CACNA1A, LOC126862864 8 7 23 23 1 3 59
CACNA1A, LOC126862865 5 2 12 26 3 0 47
CACNA1A, LOC126862866 4 4 11 23 0 0 41
CACNA1A, LOC108663985 1 0 1 3 3 0 8
BEST2, CACNA1A, CALR, DAND5, DHPS, DNASE2, FARSA, FBXW9, GADD45GIP1, GCDH, GET3, HOOK2, IER2, JUNB, KLF1, LYL1, MAN2B1, MAST1, NACC1, NFIX, PRDX2, RAD23A, RNASEH2A, RTBDN, STX10, SYCE2, TNPO2, TRIR, TRMT1, WDR83, WDR83OS 1 0 1 0 0 0 2
CACNA1A, IER2, LYL1, NACC1, NFIX, STX10, TRMT1 0 0 2 0 0 0 2
CACNA1C 0 0 2 0 0 0 2
ACP5, ANGPTL8, BEST2, C19orf38, CACNA1A, CALR, CARM1, CCDC159, CNN1, DAND5, DHPS, DNASE2, DNM2, DOCK6, ECSIT, ELAVL3, ELOF1, EPOR, FARSA, FBXW9, GADD45GIP1, GCDH, GET3, HOOK2, IER2, JUNB, KANK2, KLF1, LDLR, LYL1, MAN2B1, MAST1, MIR199A1, NACC1, NFIX, ODAD3, PRDX2, PRKCSH, RAB3D, RAD23A, RGL3, RNASEH2A, RTBDN, SMARCA4, SPC24, STX10, SWSAP1, SYCE2, TIMM29, TMED1, TMEM205, TNPO2, TRIR, TRMT1, TSPAN16, WDR83, WDR83OS, YIPF2, ZNF136, ZNF20, ZNF433, ZNF439, ZNF44, ZNF440, ZNF441, ZNF442, ZNF443, ZNF490, ZNF491, ZNF563, ZNF564, ZNF625, ZNF627, ZNF653, ZNF69, ZNF700, ZNF709, ZNF763, ZNF791, ZNF799, ZNF823, ZNF844, ZNF878 0 0 1 0 0 0 1
BEST2, CACNA1A, CALR, DAND5, DHPS, DNASE2, FARSA, FBXW9, GADD45GIP1, GCDH, GET3, HOOK2, IER2, JUNB, KLF1, LYL1, MAN2B1, MAST1, NACC1, NFIX, PRDX2, RAD23A, RNASEH2A, RTBDN, STX10, SYCE2, TNPO2, TRIR, TRMT1, WDR83, WDR83OS, ZNF490, ZNF564, ZNF791 1 0 0 0 0 0 1
CACNA1A, IER2, NACC1, STX10 0 0 1 0 0 0 1
CACNA1A, LOC108663985, LOC129391066, LOC130063715, LOC130063716, LOC130063717, LOC130063718 1 0 0 0 0 0 1
CACNA1A, LOC108663985, LOC129391066, LOC130063715, LOC130063716, LOC130063717, LOC130063718, LOC130063719 1 0 0 0 0 0 1
CACNA1A, LOC111365163, LOC112543459 1 0 0 0 0 0 1
CACNA1A, LOC112543459 1 0 0 0 0 0 1
CACNA1A, LOC121852980, LOC126862864, LOC126862865, LOC129391066, LOC130063718, LOC130063719, LOC130063720, LOC130063721 1 0 0 0 0 0 1
WDR45 0 0 1 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 224 70 1118 1436 120 0 2968
Fulgent Genetics, Fulgent Genetics 4 0 29 17 3 0 53
Institute of Human Genetics, University of Leipzig Medical Center 10 16 21 1 1 0 49
Baylor Genetics 9 6 28 0 0 0 40
UniProtKB/Swiss-Prot 0 0 0 0 0 37 37
OMIM 34 0 0 0 0 0 34
Wendy Chung Laboratory, Boston Children's Hospital 13 20 0 0 0 0 33
Neuberg Centre For Genomic Medicine, NCGM 2 0 25 0 0 0 27
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 8 4 13 0 0 0 25
3billion 8 9 4 0 0 0 21
Genome-Nilou Lab 0 0 0 0 20 0 20
Mendelics 5 5 4 2 3 0 19
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 12 6 0 0 0 0 18
New York Genome Center 0 0 17 0 0 0 17
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 6 7 2 0 0 0 15
GenomeConnect - Brain Gene Registry 0 0 0 0 0 14 14
MGZ Medical Genetics Center 2 3 8 0 0 0 13
MVZ Martinsried, Medicover Genetics 3 3 6 0 0 0 12
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 7 1 0 0 10
O&I group, Department of Genetics, University Medical Center of Groningen 3 2 5 0 0 0 10
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 4 3 0 0 0 8
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 5 1 0 0 7
GenomeConnect, ClinGen 0 0 0 0 0 7 7
Institute of Human Genetics Munich, TUM University Hospital 3 4 0 0 0 0 7
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 5 0 0 0 7
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 4 0 0 0 6
Genomics England Pilot Project, Genomics England 1 5 0 0 0 0 6
Juno Genomics, Hangzhou Juno Genomics, Inc 5 0 1 0 0 0 6
Pediatric Department, Xiangya Hospital, Central South University 2 4 0 0 0 0 6
CENTOGENE GmbH and LLC - Guiding Precision Medicine 1 1 3 0 0 0 5
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 3 1 1 0 0 0 5
Génétique des Maladies du Développement, Hospices Civils de Lyon 3 1 0 1 0 0 5
Institute of Human Genetics, University Hospital of Duesseldorf 2 0 3 0 0 0 5
Laboratoire de Génétique Moléculaire, CHU Bordeaux 2 3 0 0 0 0 5
MVZ Medizinische Genetik Mainz 1 3 1 0 0 0 5
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 2 2 1 0 0 0 5
Solve-RD Consortium 0 5 0 0 0 0 5
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 2 0 0 0 0 4
Clinical Genomics Laboratory, Washington University in St. Louis 1 2 1 0 0 0 4
E. Rossignol Lab, CHU Ste-Justine, Universite de Montreal 3 1 0 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 2 0 0 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 2 0 0 0 4
Genetic Services Laboratory, University of Chicago 4 0 0 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 1 1 2 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 3 0 0 0 4
Center of Human Genetics, Hôpital Erasme 2 1 0 0 0 0 3
Clinical Genetics Laboratory, Skane University Hospital Lund 2 1 0 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 2 0 0 0 0 3
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 0 2 0 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 2 0 0 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 1 0 1 1 0 0 3
Navigene Genetic Science Pvt Ltd 0 1 2 0 0 0 3
Pediatrics, MediClubGeorgia 2 1 0 0 0 0 3
Variantyx, Inc. 1 2 0 0 0 0 3
Blueprint Genetics 0 2 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 1 0 0 0 0 2
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 0 2 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 2 0 0 0 0 2
Cytoplasmic Inheritance Laboratory, Institute of Genetics and Cytology 1 1 0 0 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 2 0 0 0 0 2
Department of Human Genetics, Hannover Medical School 0 2 0 0 0 0 2
Department of Neurology, Zibo Changguo Hospital 1 1 0 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 0 2
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 2 0 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 2 0 0 0 2
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 1 1 0 0 0 0 2
Illumina Laboratory Services, Illumina 1 0 1 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 2 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 1 0 1 0 0 0 2
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 1 0 0 0 2
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 1 0 1 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 1 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 1 1 0 0 0 2
University of Washington Department of Laboratory Medicine, University of Washington 0 1 1 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 1
Brais Lab, Montreal Neurological Institute 0 1 0 0 0 0 1
Breda Genetics srl, Breda Genetics srl 0 1 0 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 1 0 0 0 0 1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 1 0 0 0 0 0 1
Cytogenetique et Genetique Moleculaire, CHU Besancon 0 1 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 0 0 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 1 0 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 0 1 0 0 0 1
Division of Genomics, Kyushu university 1 0 0 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 0 1
Genomics, Clalit Research Institute, Clalit Health Care 0 1 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 0 1 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 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 Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 1
Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 0 1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 1 0 0 0 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 1 0 0 0 0 0 1
Research Unit of Clinical Medicine, Medical Research Center Oulu, University of Oulu 0 1 0 0 0 0 1
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1

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