ClinVar Miner

Variants in gene CACNA1H

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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 9 1430 1614 803 6 7 3385

Condition and significance breakdown #

Total conditions: 19
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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 0 897 1417 698 0 1 3013
Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 0 0 325 247 16 0 0 588
not provided 1 5 247 140 186 0 0 550
Inborn genetic diseases 0 0 181 68 0 0 0 249
Epilepsy, childhood absence, susceptibility to, 6 0 1 42 0 7 4 4 57
not specified 0 0 15 9 32 0 0 56
Hyperaldosteronism, familial, type IV 1 0 22 0 0 0 0 23
CACNA1H-related condition 0 0 10 0 0 0 0 10
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
Hyperaldosteronism 0 1 0 0 1 0 0 2
Breast ductal adenocarcinoma 0 0 1 0 0 0 0 1
CACNA1H-related disorder 0 0 0 0 0 0 1 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
Seizure 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 47
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 1 0 897 1433 699 0 0 3030
Fulgent Genetics, Fulgent Genetics 0 0 324 247 16 0 0 587
GeneDx 1 3 170 57 121 0 0 352
Ambry Genetics 0 0 181 68 0 0 0 249
Athena Diagnostics Inc 0 0 39 19 86 0 0 144
CeGaT Center for Human Genetics Tuebingen 0 1 25 38 23 0 0 87
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 Omics 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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 11 3 0 0 0 14
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 4 7 0 0 0 11
Preventiongenetics, part of Exact Sciences 0 0 10 0 0 0 0 10
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
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
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 0 0 3 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 3 0 0 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 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
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 0 3 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
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
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 1 0 0 0 0 0 1
Department of Laboratory Medicine, Yonsei University College of Medicine 0 1 0 0 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

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