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 6 365 348 175 6 3 870

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
not provided 0 4 88 299 161 0 0 529
Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 0 0 286 47 14 0 0 347
not specified 0 0 4 2 23 0 0 29
Epilepsy, childhood absence 6 0 0 4 0 7 4 2 17
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
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, familial, type IV 1 0 0 0 0 0 0 1
Primary hyperaldosteronism 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 0 0 286 329 136 0 0 751
Athena Diagnostics Inc 0 0 27 17 81 0 0 125
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
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
GenomeConnect, ClinGen 0 0 0 0 0 0 3 3
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 3 0 0 3
Mayo Clinic Genetic Testing 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
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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 0 1

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