ClinVar Miner

Variants in gene ALDH7A1

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Minimum submission review status: Collection method:
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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
138 119 412 475 113 4 1120

Condition and significance breakdown #

Total conditions: 18
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Pyridoxine-dependent epilepsy 130 95 337 422 52 4 964
not provided 39 29 97 56 66 0 281
not specified 0 1 30 51 31 0 105
Inborn genetic diseases 5 5 68 17 7 0 102
ALDH7A1-related disorder 3 1 3 10 0 0 17
See cases 3 1 0 0 0 0 4
Epilepsy 1 2 0 0 0 0 3
Developmental and epileptic encephalopathy, 1 0 0 2 0 0 0 2
Intellectual disability 0 0 1 1 0 0 2
Pyridoxine-dependent epilepsy caused by ALDH7A1 mutant 2 0 0 0 0 0 2
Seizure 1 1 0 0 0 0 2
Seizure; Ventriculomegaly 2 0 0 0 0 0 2
Abnormal brain morphology 0 1 0 0 0 0 1
Abnormality of the nervous system 0 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 13 1 0 0 0 0 0 1
Intractable seizure 0 0 1 0 0 0 1
Leukoencephalopathy 0 0 1 0 0 0 1
Neonatal seizure 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 72
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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
GeneDx 29 25 75 80 86 0 295
Genome-Nilou Lab 19 12 65 28 27 0 151
Illumina Laboratory Services, Illumina 1 0 86 7 29 0 123
Ambry Genetics 6 5 68 17 7 0 103
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 15 14 24 5 0 0 58
CeGaT Center for Human Genetics Tuebingen 9 3 7 13 1 0 33
Fulgent Genetics, Fulgent Genetics 16 12 2 2 0 0 32
Revvity Omics, Revvity 9 4 12 0 0 0 25
PreventionGenetics, part of Exact Sciences 3 1 3 12 4 0 23
Eurofins Ntd Llc (ga) 5 0 13 2 2 0 22
Breakthrough Genomics, Breakthrough Genomics 0 0 3 8 0 0 11
Genetic Services Laboratory, University of Chicago 0 0 4 4 2 0 10
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 2 0 8 0 10
OMIM 9 0 0 0 0 0 9
Athena Diagnostics 0 1 1 4 2 0 8
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 1 0 1 4 0 7
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 3 2 0 0 0 7
Center of Excellence for Medical Genomics, Chulalongkorn University 4 3 0 0 0 0 7
Baylor Genetics 2 0 4 0 0 0 6
Clinical Genetics, Academic Medical Center 0 0 0 1 5 0 6
Mendelics 1 1 1 1 2 0 6
Mayo Clinic Laboratories, Mayo Clinic 1 0 5 0 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 1 0 0 0 0 5
3billion 2 1 2 0 0 0 5
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 2 0 0 2 0 0 4
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 3 0 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 1 2 1 0 0 0 4
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 0 2 0 0 0 3
GeneReviews 0 0 0 0 0 3 3
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 1 1 0 0 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
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 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
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
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 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
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 1 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 0 1 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 1 1 0 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 1 1 0 0 0 0 2
Department of Human Genetics, Hannover Medical School 1 0 1 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 0 1
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
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 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
Molecular Genetics, Royal Melbourne Hospital 1 0 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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