ClinVar Miner

Variants studied for ATP1A3-associated neurological disorder

Included ClinVar conditions (8):
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 not provided total
85 72 321 486 66 18 979

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ATP1A3 85 71 315 482 65 18 968
ATP1A3, LOC130064543 0 0 6 4 1 0 10
SCN2A 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 64
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 64 25 267 478 40 0 874
Illumina Laboratory Services, Illumina 2 1 27 9 38 0 74
Genome-Nilou Lab 0 0 0 0 51 0 51
OMIM 21 0 0 0 0 0 21
Fulgent Genetics, Fulgent Genetics 4 0 4 10 1 0 19
GeneReviews 0 0 0 0 0 18 18
3billion 8 3 2 0 0 0 13
Baylor Genetics 4 5 3 0 0 0 11
Mendelics 3 4 1 0 0 0 8
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 5 3 0 0 0 0 8
Institute of Human Genetics, University of Leipzig Medical Center 5 1 2 0 0 0 8
Génétique des Maladies du Développement, Hospices Civils de Lyon 3 4 1 0 0 0 8
Neuberg Centre For Genomic Medicine, NCGM 2 3 3 0 0 0 8
Genetic Services Laboratory, University of Chicago 3 3 1 0 0 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 1 4 0 0 0 7
MGZ Medical Genetics Center 2 2 1 0 0 0 5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 0 3 0 0 0 5
Juno Genomics, Hangzhou Juno Genomics, Inc 2 2 1 0 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 3 0 0 0 5
Centogene AG - the Rare Disease Company 2 2 0 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 1 0 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 0 0 0 0 0 3
Center of Excellence for Medical Genomics, Chulalongkorn University 3 0 0 0 0 0 3
MVZ Medizinische Genetik Mainz 0 0 3 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 2 0 0 0 0 0 2
Undiagnosed Diseases Network, NIH 2 0 0 0 0 0 2
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 0 2 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 2 0 0 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 1 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 0 2 0 0 0 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 0 1 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 1 0 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 1 0 0 0 0 0 1
TIDEX, University of British Columbia 1 0 0 0 0 0 1
Wangler Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 1 0 0 0 0 1
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong 1 0 0 0 0 0 1
Genetics Laboratory, Instituto de Ciencias en Reproduccion Humana 1 0 0 0 0 0 1
Human Genetics Section, Sidra Medicine 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 1 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 1 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 1 0 0 0 0 0 1
Eurofins-Biomnis 0 1 0 0 0 0 1
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 0 1 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1
Dr.Nikuei Genetic Center 0 0 0 0 1 0 1

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