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 5 270 126 138 6 2 528

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
Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 0 0 206 110 101 0 0 417
not provided 0 3 65 16 62 0 0 145
not specified 0 0 4 2 23 0 0 29
Epilepsy, childhood absence 6 0 0 3 0 7 4 1 15
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: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 0 0 206 110 101 0 0 417
Athena Diagnostics Inc 0 0 20 11 68 0 0 99
GeneDx 0 3 33 2 1 0 0 39
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 8 0 18 0 0 26
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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 5 0 0 0 0 5
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
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
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

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