ClinVar Miner

Variants studied for ATP1A3-associated neurological disorder

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
97 84 382 568 66 18 1137

Gene and significance breakdown #

Total genes and gene combinations: 3
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ATP1A3 97 82 377 563 65 18 1125
ATP1A3, LOC130064543 0 1 5 5 1 0 11
SCN2A 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 74
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 74 32 326 559 40 0 1031
Illumina Laboratory Services, Illumina 2 1 25 9 38 0 72
Genome-Nilou Lab 0 0 0 0 51 0 51
Fulgent Genetics, Fulgent Genetics 4 0 6 10 1 0 21
OMIM 21 0 0 0 0 0 21
GeneReviews 0 0 0 0 0 18 18
3billion 7 6 3 0 0 0 16
Baylor Genetics 4 5 3 0 0 0 11
Institute of Human Genetics, University of Leipzig Medical Center 6 2 1 0 0 0 9
Neuberg Centre For Genomic Medicine, NCGM 2 3 4 0 0 0 9
Génétique des Maladies du Développement, Hospices Civils de Lyon 3 4 1 0 0 0 8
Institute of Human Genetics Munich, TUM University Hospital 5 3 0 0 0 0 8
Mendelics 3 4 1 0 0 0 8
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 1 4 0 0 0 7
Genetic Services Laboratory, University of Chicago 3 3 1 0 0 0 7
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 1 3 0 0 0 6
Juno Genomics, Hangzhou Juno Genomics, Inc 2 3 1 0 0 0 6
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 3 0 0 0 5
MGZ Medical Genetics Center 2 2 1 0 0 0 5
CENTOGENE GmbH and LLC - Guiding Precision Medicine 2 2 0 0 0 0 4
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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 0 0 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 1 0 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 2
Centre of Medical Genetics, University Hospital Muenster 0 2 0 0 0 0 2
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 2 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 0 2
Groupe Hospitalier Pitie Salpetriere, Uf Genomique Du Developpement, Assistance Publique Hopitaux de Paris Sorbonne Université 0 2 0 0 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 2 0 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 2 0 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 2
Undiagnosed Diseases Network, NIH 2 0 0 0 0 0 2
Variantyx, Inc. 2 0 0 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 1 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
Center of Human Genetics, Hôpital Erasme 1 0 0 0 0 0 1
Centre for Medical Genetics, Mumbai 0 0 0 1 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 1 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 1 0 0 0 0 0 1
Department of Human Genetics, SALK University Hospital, Paracelsus Medical University Salzburg 1 0 0 0 0 0 1
Department of Neurology, Zibo Changguo Hospital 1 0 0 0 0 0 1
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong 1 0 0 0 0 0 1
Department of Rehabilitation, Anhui Provincial Children's Hospital 1 0 0 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 1 0 0 0 0 1
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 0 1 0 0 0 0 1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Dr.Nikuei Genetic Center 0 0 0 0 1 0 1
Dubai Health Genomic Medicine Center, Dubai Health 1 0 0 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Eurofins-Biomnis 0 1 0 0 0 0 1
Genetics Laboratory, Instituto de Ciencias en Reproduccion Humana 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 0 1
Human Genetics Section, Sidra Medicine 1 0 0 0 0 0 1
Intergen Genetics and Rare Diseases Diagnosis Center 0 0 0 1 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 1 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 1 0 0 0 0 1
MVZ Martinsried, Medicover Genetics 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 1 0 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1
TIDEX, University of British Columbia 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 1 0 0 0 1
Wangler Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.