ClinVar Miner

Variants in gene CACNA1H

See also:
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
8 11 2109 1931 862 38 4210

Condition and significance breakdown #

Total conditions: 34
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 1 0 1066 1644 752 1 3463
Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 0 0 669 283 16 0 968
not provided 1 5 370 194 192 0 716
Inborn genetic diseases 0 0 488 89 0 0 577
not specified 0 0 73 69 74 0 215
CACNA1H-related disorder 0 0 29 91 19 1 140
Epilepsy, childhood absence, susceptibility to, 6 4 2 54 1 7 4 70
Hyperaldosteronism, familial, type IV 1 0 52 3 0 0 56
Familial cancer of breast 0 0 0 0 0 5 5
See cases 0 0 3 2 0 0 5
Ovarian serous cystadenocarcinoma 0 0 0 0 0 4 4
Cervical cancer 0 0 0 0 0 3 3
Hepatocellular carcinoma 0 0 0 0 0 3 3
Lung cancer 0 0 0 0 0 3 3
Malignant tumor of esophagus 0 0 0 0 0 3 3
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 3 3
Abnormal brain morphology 0 2 0 0 0 0 2
Acute myeloid leukemia 0 0 0 0 0 2 2
Epilepsy, idiopathic generalized, susceptibility to, 6 2 0 0 0 0 0 2
Gastric cancer 0 0 0 0 0 2 2
Increased circulating aldosterone concentration 0 1 0 0 1 0 2
Malignant tumor of urinary bladder 0 0 0 0 0 2 2
Primary aldosteronism 1 1 0 0 0 0 2
Sarcoma 0 0 0 0 0 2 2
Thymoma 0 0 0 0 0 2 2
Uterine corpus endometrial carcinoma 0 0 0 0 0 2 2
Adrenocortical carcinoma, hereditary 0 0 0 0 0 1 1
Breast ductal adenocarcinoma 0 0 1 0 0 0 1
Cerebral arteriovenous malformation; Tremor; Hand tremor; Arteriovenous malformation 0 0 1 0 0 0 1
Cholangiocarcinoma 0 0 0 0 0 1 1
Colon adenocarcinoma 0 0 0 0 0 1 1
Focal epilepsy 0 0 1 0 0 0 1
Idiopathic generalized epilepsy; Epilepsy, childhood absence, susceptibility to, 6 0 0 0 0 0 1 1
Nonpapillary renal cell carcinoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 65
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 1 0 1066 1654 753 0 3474
Fulgent Genetics, Fulgent Genetics 0 0 665 283 16 0 964
Ambry Genetics 0 0 488 89 0 0 577
GeneDx 1 3 257 57 121 0 439
Breakthrough Genomics, Breakthrough Genomics 0 0 18 55 113 0 186
Athena Diagnostics 0 0 43 23 97 0 163
PreventionGenetics, part of Exact Sciences 0 0 28 91 19 0 138
CeGaT Center for Human Genetics Tuebingen 0 1 39 67 20 0 127
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 69 50 1 0 120
Mayo Clinic Laboratories, Mayo Clinic 0 0 6 14 42 0 62
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 31 31
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 26 1 0 0 27
Eurofins Ntd Llc (ga) 0 0 8 0 18 0 26
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 14 12 0 26
Revvity Omics, Revvity 0 0 20 0 0 0 20
Baylor Genetics 0 0 18 0 0 0 18
New York Genome Center 0 0 18 0 0 0 18
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 15 0 0 16
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 11 1 0 12
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 4 7 0 0 11
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 6 2 0 9
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 7 0 8
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 6 1 0 0 8
OMIM 7 0 0 0 0 0 7
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 4 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 2 0 0 4
3billion 0 0 2 1 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 3 0 0 0 3
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 0 1 2 0 0 3
Clinical Genomics Laboratory, Stanford Medicine 0 0 3 0 0 0 3
GenomeConnect - Brain Gene Registry 0 0 0 0 0 3 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 3 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 3 0 0 0 3
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 2 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 2 0 0 0 2
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 0 2 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 2 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Bionano Laboratories 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Centre for Medical Genetics, Mumbai 0 0 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Centre of Medical Genetics, University Hospital Muenster 0 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 1
Dasa 0 0 1 0 0 0 1
Department of Clinical Laboratory, Qingdao Central 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 Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 1
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 0 1 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 0 1 0 0 1
MVZ Martinsried, Medicover Genetics 0 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
Medgenome Labs Pvt Ltd 0 0 1 0 0 0 1
Neurogenetics Laboratory - MEYER, AOU Meyer 0 0 1 0 0 0 1
Next Generation Diagnostics, Novartis Institutes for BioMedical Research, Inc. 0 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
Richard Lifton Laboratory, Yale University School of Medicine 1 0 0 0 0 0 1
Taiwan Primary Aldosteronism Investigation 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.