ClinVar Miner

Variants studied for Pyridoxine-dependent epilepsy

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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
119 72 356 390 55 4 928

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 118 72 339 389 52 4 906
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: 46
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 108 38 246 377 18 0 787
Genome-Nilou Lab 19 12 65 28 27 0 151
Illumina Laboratory Services, Illumina 1 0 101 8 32 0 142
Revvity Omics, Revvity 9 4 12 0 0 0 25
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 7 0 0 0 0 12
OMIM 9 0 0 0 0 0 9
Center of Excellence for Medical Genomics, Chulalongkorn University 5 3 0 0 0 0 8
Fulgent Genetics, Fulgent Genetics 2 1 2 2 0 0 7
Baylor Genetics 1 0 4 0 0 0 5
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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 2 1 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 1 0 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
Lifecell International Pvt. Ltd 1 2 0 0 0 0 3
3billion 2 0 1 0 0 0 3
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
New York Genome Center 1 0 1 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 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
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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