ClinVar Miner

Variants in gene CACNA1H

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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 risk factor not provided total
2 10 1961 1812 832 6 7 3938

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 1 0 986 1546 727 0 1 3260
Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 0 0 669 283 16 0 0 968
not provided 1 5 343 175 192 0 0 677
Inborn genetic diseases 0 0 388 84 0 0 0 472
CACNA1H-related disorder 0 0 28 91 19 0 1 139
not specified 0 0 53 38 45 0 0 136
Epilepsy, childhood absence, susceptibility to, 6 0 2 48 0 7 4 4 63
Hyperaldosteronism, familial, type IV 1 0 47 2 0 0 0 50
See cases 0 0 3 2 0 0 0 5
Abnormal brain morphology 0 2 0 0 0 0 0 2
Epilepsy, idiopathic generalized, susceptibility to, 6 0 0 0 0 0 2 0 2
Increased circulating aldosterone concentration 0 1 0 0 1 0 0 2
Breast ductal adenocarcinoma 0 0 1 0 0 0 0 1
Cerebral arteriovenous malformation; Tremor; Hand tremor; Arteriovenous malformation 0 0 1 0 0 0 0 1
Focal epilepsy 0 0 1 0 0 0 0 1
Idiopathic generalized epilepsy; Epilepsy, childhood absence, susceptibility to, 6 0 0 0 0 0 0 1 1
Primary aldosteronism 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 56
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 1 0 986 1558 728 0 0 3273
Fulgent Genetics, Fulgent Genetics 0 0 665 283 16 0 0 964
Ambry Genetics 0 0 388 84 0 0 0 472
GeneDx 1 3 237 57 121 0 0 419
Breakthrough Genomics, Breakthrough Genomics 0 0 18 55 113 0 0 186
Athena Diagnostics 0 0 41 21 96 0 0 158
PreventionGenetics, part of Exact Sciences 0 0 28 91 19 0 0 138
CeGaT Center for Human Genetics Tuebingen 0 1 34 57 18 0 0 110
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 49 29 0 0 0 78
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 26 1 0 0 0 27
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 14 12 0 0 26
Eurofins Ntd Llc (ga) 0 0 8 0 18 0 0 26
Baylor Genetics 0 0 18 0 0 0 0 18
Revvity Omics, Revvity 0 0 18 0 0 0 0 18
New York Genome Center 0 0 18 0 0 0 0 18
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 15 0 0 0 16
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 4 7 0 0 0 11
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 6 2 0 0 9
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 7 0 0 8
OMIM 1 0 0 0 0 6 0 7
Mayo Clinic Laboratories, Mayo Clinic 0 0 5 0 0 0 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 3 0 0 0 0 4
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 4 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 2 0 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 3 0 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 3 0 0 0 0 3
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 0 1 2 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 0 3 3
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 3 0 0 0 0 3
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 3 3
Centogene AG - the Rare Disease Company 0 0 2 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 2 0 0 0 0 0 2
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 0 2 0 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 2 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 0 2
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 0 1
Bionano Laboratories 0 0 1 0 0 0 0 1
Richard Lifton Laboratory, Yale University School of Medicine 1 0 0 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 0 1
Next Generation Diagnostics, Novartis Institutes for BioMedical Research, Inc. 0 0 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 0 1
Neurogenetics Laboratory - MEYER, AOU Meyer 0 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 0 1 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 1 0 0 0 0 0 1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 1 0 0 0 0 0 1
3billion 0 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 1 1
Taiwan Primary Aldosteronism Investigation 0 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 0 1

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