ClinVar Miner

Variants studied for CACNA1C-related disorder

Included ClinVar conditions (17):
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
30 43 219 83 39 11 398

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CACNA1C 30 42 218 83 39 11 396
CACNA1A, LOC126862864 0 1 0 0 0 0 1
CACNA1C, LINC02371, LOC130007181 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 58
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PreventionGenetics, part of Exact Sciences 0 2 38 65 6 0 111
Fulgent Genetics, Fulgent Genetics 0 2 81 19 3 0 105
Genome-Nilou Lab 0 0 0 0 26 0 26
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 4 17 1 0 0 26
MVZ Martinsried, Medicover Genetics 1 2 17 0 0 0 20
OMIM 19 0 0 0 0 0 19
3billion 3 3 10 0 0 0 16
New York Genome Center 0 0 12 0 0 0 12
Mendelics 3 1 3 0 3 0 10
Neuberg Centre For Genomic Medicine, NCGM 0 0 9 0 0 0 9
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 3 0 1 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
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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 1 2 0 0 4
MVZ Medizinische Genetik Mainz 0 3 1 0 0 0 4
Illumina Laboratory Services, Illumina 0 1 2 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 2 1 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
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
Dept of Medical Biology, Uskudar University 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
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 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
Undiagnosed Diseases Network, NIH 0 1 1 0 0 0 2
Blueprint Genetics 1 0 0 0 0 0 1
Bristol Genetics Laboratory, North Bristol NHS Trust 0 1 0 0 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 0 1 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 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
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 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 and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 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

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