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
1 6 728 476 178 6 3 1353

Condition and significance breakdown #

Total conditions: 15
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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 0 0 643 382 129 0 0 1154
not provided 0 4 98 135 82 0 0 312
Epilepsy, childhood absence 6 0 0 24 0 7 4 2 37
not specified 0 0 6 2 26 0 0 34
Epilepsy, childhood absence 6; Hyperaldosteronism, familial, type IV 0 0 13 0 0 0 0 13
Abnormality of brain morphology 0 2 0 0 0 0 0 2
Epilepsy, idiopathic generalized 6 0 0 0 0 0 2 0 2
Hyperaldosteronism, familial, type IV 1 0 1 0 0 0 0 2
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
Ductal breast carcinoma 0 0 1 0 0 0 0 1
Focal epilepsy 0 0 1 0 0 0 0 1
Hyperaldosteronism 0 0 0 0 1 0 0 1
Primary hyperaldosteronism 1 0 0 0 0 0 0 1
Seizures 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 0 0 643 459 137 0 0 1239
Athena Diagnostics Inc 0 0 35 18 84 0 0 137
GeneDx 0 3 33 3 1 0 0 40
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 8 0 18 0 0 26
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 21 3 0 0 0 25
Baylor Genetics 0 0 18 0 0 0 0 18
Fulgent Genetics,Fulgent Genetics 0 0 13 0 0 0 0 13
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 4 7 0 0 0 11
OMIM 1 0 0 0 0 6 0 7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 7 0 0 7
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 5 0 0 5
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 3 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
New York Genome Center 0 0 3 0 0 0 0 3
Integrated Genetics/Laboratory Corporation of America 0 0 2 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 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
Lineagen, Inc 0 0 1 0 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 0 1 0 0 0 0 1
Richard Lifton Laboratory, Yale University School of Medicine 1 0 0 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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 0 1

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