ClinVar Miner

Variants studied for alternating hemiplegia of childhood 2

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
24 17 42 19 57 148

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 24 17 39 19 56 144
ATP1A3, LOC130064543 0 0 3 0 1 4

Submitter and significance breakdown #

Total submitters: 35
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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
Fulgent Genetics, Fulgent Genetics 4 0 4 10 1 19
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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 0 3 0 0 5
Juno Genomics, Hangzhou Juno Genomics, Inc 2 2 1 0 0 5
Baylor Genetics 1 3 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 1 2 0 0 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 0 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 2 0 1 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 2
MGZ Medical Genetics Center 1 1 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 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
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
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong 1 0 0 0 0 1
Genetics Laboratory, Instituto de Ciencias en Reproduccion Humana 1 0 0 0 0 1
Human Genetics Section, Sidra Medicine 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 1 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 1
Dr.Nikuei Genetic Center 0 0 0 0 1 1

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