ClinVar Miner

Variants studied for Alternating hemiplegia of childhood 2

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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 total
22 12 32 9 56 123

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ATP1A3 22 12 30 9 55 120
ATP1A3, LOC130064543 0 0 2 0 1 3

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 25 9 35 69
Genome-Nilou Lab 0 0 0 0 51 51
OMIM 9 0 0 0 0 9
Génétique des Maladies du Développement, Hospices Civils de Lyon 3 4 1 0 0 8
Genetic Services Laboratory, University of Chicago 3 3 1 0 0 7
3billion 5 1 1 0 0 7
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 0 2 0 0 3
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 2 0 1 0 0 3
Baylor Genetics 1 1 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 2
MGZ Medical Genetics Center 1 1 0 0 0 2
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 2 0 0 0 0 2
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 2 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 1 0 0 0 0 1
Wangler Lab, Baylor College of Medicine 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 1
Genetics Laboratory, Instituto de Ciencias en Reproduccion Humana 1 0 0 0 0 1
Department of Laboratory Medicine, Yonsei University College of Medicine 0 1 0 0 0 1

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