ClinVar Miner

Variants in gene CACNA1S

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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 drug response not provided total
107 85 1949 1601 291 2 25 3506

Condition and significance breakdown #

Total conditions: 48
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Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response not provided total
Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 84 32 695 1231 158 0 2 2200
Malignant hyperthermia, susceptibility to, 5 8 18 1200 627 101 0 0 1888
not provided 11 30 448 215 132 0 2 803
Hypokalemic periodic paralysis, type 1 10 21 186 168 134 0 8 481
Congenital myopathy 18 14 5 121 150 72 0 0 359
Thyrotoxic periodic paralysis, susceptibility to, 1 3 1 116 150 72 0 0 342
Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1; Congenital myopathy 18 5 16 252 5 0 0 0 278
Inborn genetic diseases 0 1 247 8 1 0 0 257
not specified 1 0 39 111 72 0 0 207
Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1 0 7 105 81 3 0 0 196
CACNA1S-related disorder 1 2 22 61 3 0 0 89
Malignant hyperthermia of anesthesia 0 2 7 2 1 0 0 12
Hypokalemic periodic paralysis 0 2 1 1 0 0 0 4
Long QT syndrome 0 1 3 0 0 0 0 4
Malignant hyperthermia, susceptibility to, 1 0 0 4 0 0 0 0 4
Centronuclear myopathy 3 0 0 0 0 0 0 3
Congenital myopathy 2 0 1 0 0 0 0 3
Uterine corpus endometrial carcinoma 0 0 0 0 0 0 3 3
Abnormality of the musculature 1 1 0 0 0 0 0 2
Hepatocellular carcinoma 0 0 0 0 0 0 2 2
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 0 2 2
desflurane response - Toxicity 0 0 0 0 0 2 0 2
enflurane response - Toxicity 0 0 0 0 0 2 0 2
halothane response - Toxicity 0 0 0 0 0 2 0 2
isoflurane response - Toxicity 0 0 0 0 0 2 0 2
methoxyflurane response - Toxicity 0 0 0 0 0 2 0 2
sevoflurane response - Toxicity 0 0 0 0 0 2 0 2
succinylcholine response - Toxicity 0 0 0 0 0 2 0 2
Cholangiocarcinoma 0 0 0 0 0 0 1 1
Clear cell carcinoma of kidney 0 0 0 0 0 0 1 1
Congenital nuclear cataract 0 1 0 0 0 0 0 1
Familial cancer of breast 0 0 0 0 0 0 1 1
Fetal anomalies with a likely genetic cause 0 1 0 0 0 0 0 1
Hereditary liability to pressure palsies 0 0 0 1 0 0 0 1
Hypokalemic periodic paralysis, type 1; Congenital myopathy; Malignant hyperthermia, susceptibility to, 5 0 0 0 0 0 0 1 1
Hypokalemic periodic paralysis, type 1; Thyrotoxic periodic paralysis, susceptibility to, 1 0 0 1 0 0 0 0 1
Intellectual disability 0 0 1 0 0 0 0 1
Lung cancer 0 0 0 0 0 0 1 1
Malignant hyperthermia, susceptibility to 0 1 0 0 0 0 0 1
Malignant tumor of esophagus 0 0 0 0 0 0 1 1
Muscular atrophy; skeletal contractures 0 0 1 0 0 0 0 1
Nonpapillary renal cell carcinoma 0 0 0 0 0 0 1 1
Ovarian cancer 0 0 0 0 0 0 1 1
Ovarian serous cystadenocarcinoma 0 0 0 0 0 0 1 1
Rhabdomyolysis 0 1 0 0 0 0 0 1
Sarcoma 0 0 0 0 0 0 1 1
See cases 0 0 1 0 0 0 0 1
Squamous cell carcinoma of the head and neck 0 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 92
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response not provided total
Labcorp Genetics (formerly Invitae), Labcorp 84 32 695 1232 158 0 0 2201
All of Us Research Program, National Institutes of Health 1 1 805 319 37 0 0 1163
Color Diagnostics, LLC DBA Color Health 1 1 578 387 62 0 0 1029
GeneDx 7 12 322 176 126 0 0 643
Fulgent Genetics, Fulgent Genetics 5 23 356 86 3 0 0 473
Genome-Nilou Lab 4 14 115 150 86 0 0 369
Ambry Genetics 0 1 247 8 1 0 0 257
Illumina Laboratory Services, Illumina 0 0 58 30 107 0 0 195
PreventionGenetics, part of Exact Sciences 1 2 22 86 49 0 0 160
CeGaT Center for Human Genetics Tuebingen 4 9 51 77 7 0 0 148
Breakthrough Genomics, Breakthrough Genomics 0 0 6 48 73 0 0 127
Mayo Clinic Laboratories, Mayo Clinic 1 0 30 13 42 0 0 86
Revvity Omics, Revvity 1 10 68 2 0 0 0 81
Athena Diagnostics 3 1 12 8 53 0 0 77
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 3 27 33 8 0 0 75
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 3 6 12 0 0 22
Gharavi Laboratory, Columbia University 0 0 22 0 0 0 0 22
OMIM 20 0 0 0 0 0 0 20
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 0 18 0 0 19
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 0 12 12
Institute of Human Genetics, University of Leipzig Medical Center 1 2 7 1 0 0 0 11
CSER _CC_NCGL, University of Washington 0 0 8 2 0 0 0 10
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 3 7 0 0 0 0 10
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 8 0 0 0 0 9
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 8 0 0 8
GeneReviews 0 0 0 0 0 0 8 8
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 6 1 0 0 8
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 4 2 0 0 6
Baylor Genetics 0 1 4 0 0 0 0 5
Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences 4 1 0 0 0 0 0 5
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 5 0 0 0 0 5
MGZ Medical Genetics Center 0 2 3 0 0 0 0 5
Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire 5 0 0 0 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 3 0 0 0 0 5
Dept of Medical Biology, Uskudar University 0 1 3 0 0 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 4 0 0 0 0 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 2 1 0 0 0 0 4
Mendelics 1 1 1 1 0 0 0 4
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 3 0 0 0 3
Dasa 3 0 0 0 0 0 0 3
Eurofins Ntd Llc (ga) 1 0 1 0 1 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 3 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 0 0 3
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 1 2 0 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 0 1 2 0 0 0 0 3
Kariminejad - Najmabadi Pathology & Genetics Center 1 1 1 0 0 0 0 3
Laboratory of Genetics, Children's Clinical University Hospital Latvia 1 0 0 2 0 0 0 3
Leeds Institute of Medical Research, University of Leeds 0 0 3 0 0 0 0 3
Variantyx, Inc. 1 2 0 0 0 0 0 3
3billion 2 0 0 0 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 0 2 0 0 0 0 2
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 2 0 0 0 0 2
ClinPGx 0 0 0 0 0 2 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 0 0 0 2
Department of Human Genetics, Hannover Medical School 1 0 1 0 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 1 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 1 0 0 0 0 2
Institute of Human Genetics Munich, TUM University Hospital 2 0 0 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 2 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 0 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 0 0 2 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 1 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 1 0 0 0 1 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 0 0 1
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 1 0 0 0 0 1
Centre for Medical Genetics, Mumbai 0 0 0 1 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 0 1 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 0 0 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 0 0 0 1 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 0 1
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 0 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 0 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 0 1
Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 0 0 1
Laboratory of Molecular Genetics, Research Center of Neurology 1 0 0 0 0 0 0 1
MVZ Martinsried, Medicover Genetics 0 1 0 0 0 0 0 1
Molecular Medicine Center, Medical University of Sofia 0 1 0 0 0 0 0 1
New York Genome Center 1 0 0 0 0 0 0 1
Pediatric Endocrinology, Shandong Provincial Hospital Affiliated to Shandong First Medical University 0 0 1 0 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 0 1 0 0 0 0 0 1

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