ClinVar Miner

Variants studied for Pyridoxine-dependent epilepsy

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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 not provided total
131 94 356 423 55 4 985

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ALDH7A1 130 94 339 422 52 4 963
ALDH7A1, LOC112997555 0 0 12 1 2 0 15
ALDH7A1, LOC129994503 0 0 0 0 1 0 1
ALDH7A1, PHAX 1 0 0 0 0 0 1
GAD1 0 0 1 0 0 0 1
GRIN2A 0 0 1 0 0 0 1
PNKP 0 0 1 0 0 0 1
POMT1 0 0 1 0 0 0 1
SCN2A 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 50
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 119 42 243 410 18 0 832
Genome-Nilou Lab 19 12 65 28 27 0 151
Illumina Laboratory Services, Illumina 1 0 101 8 32 0 142
Fulgent Genetics, Fulgent Genetics 16 12 2 2 0 0 32
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 13 13 0 0 0 0 26
Revvity Omics, Revvity 9 4 12 0 0 0 25
OMIM 9 0 0 0 0 0 9
Center of Excellence for Medical Genomics, Chulalongkorn University 5 3 0 0 0 0 8
Baylor Genetics 2 0 4 0 0 0 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 2 2 0 0 0 6
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 5 0 0 0 5
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 1 3 0 5
Mendelics 1 1 0 1 2 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 1 0 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 1 2 1 0 0 0 4
GeneReviews 0 0 0 0 0 3 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 1 0 0 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 1 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 1 1 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 1 2 0 0 0 0 3
New York Genome Center 1 0 2 0 0 0 3
Lifecell International Pvt. Ltd 1 2 0 0 0 0 3
3billion, Medical Genetics 2 0 1 0 0 0 3
Neurogenetics Team, Indira Gandhi Institute of Child Health 0 2 1 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 0 1 0 0 2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 2 0 0 0 0 2
Elsea Laboratory, Baylor College of Medicine 2 0 0 0 0 0 2
MGZ Medical Genetics Center 2 0 0 0 0 0 2
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 1 1 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 1 0 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 2 0 0 0 0 2
Department of Human Genetics, Hannover Medical School 1 0 1 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 1 0 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 1 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 0 0 0 1
Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital 0 1 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Cytogenetique et Genetique Moleculaire, CHU Besancon 0 1 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 1
Medical Genetic Diagnosis and Therapy Center, Fujian Medical University 0 1 0 0 0 0 1

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