ClinVar Miner

Variants in gene ACADM

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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 risk factor not provided total
253 267 285 313 59 1 6 952

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Medium-chain acyl-coenzyme A dehydrogenase deficiency 249 252 216 288 36 0 2 855
not provided 43 36 61 38 43 0 4 210
not specified 0 2 41 13 12 1 0 68
Inborn genetic diseases 4 0 25 14 0 0 0 43
ACADM-related disorder 7 8 9 4 1 0 0 29
See cases 2 1 3 0 0 0 0 6
Epileptic spasm 0 2 0 0 0 0 0 2
Hydrocephalus, nonsyndromic, autosomal recessive 2 0 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 risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 225 67 117 279 12 0 0 700
Baylor Genetics 68 86 1 0 0 0 0 155
GeneDx 26 25 26 28 41 0 0 146
Natera, Inc. 29 11 53 16 17 0 0 126
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 37 19 40 4 3 0 0 103
Counsyl 7 53 33 2 1 0 0 96
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 29 14 27 2 20 0 0 92
Fulgent Genetics, Fulgent Genetics 17 55 6 2 0 0 0 80
Eurofins Ntd Llc (ga) 19 3 31 0 6 0 0 59
Illumina Laboratory Services, Illumina 2 1 29 7 10 0 0 49
Ambry Genetics 4 0 25 14 0 0 0 43
PreventionGenetics, part of Exact Sciences 7 8 9 6 11 0 0 41
Breakthrough Genomics, Breakthrough Genomics 0 0 2 12 25 0 0 39
Quest Diagnostics Nichols Institute San Juan Capistrano 12 6 9 1 4 0 0 32
Revvity Omics, Revvity 10 12 9 0 0 0 0 31
CeGaT Center for Human Genetics Tuebingen 9 2 4 9 0 0 0 24
OMIM 15 0 0 0 0 1 0 16
Myriad Genetics, Inc. 3 12 0 0 0 0 0 15
Genome-Nilou Lab 0 0 2 1 11 0 0 14
Department of Pathology and Laboratory Medicine, Sinai Health System 3 2 2 0 1 0 0 8
MGZ Medical Genetics Center 3 2 2 0 0 0 0 7
Mendelics 4 1 2 0 0 0 0 7
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 7 0 0 0 0 0 0 7
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 4 3 0 0 0 0 0 7
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 2 0 0 1 0 0 6
Mayo Clinic Laboratories, Mayo Clinic 2 1 3 0 0 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 1 1 0 0 0 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 5 1 0 0 0 0 6
Department of Genetics of Metabolic Diseases, Institute of Medical & Molecular Genetics, Hospital Universitario Hospital La Paz 5 1 0 0 0 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 3 0 2 0 0 0 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 1 0 0 0 0 0 4
Institute of Human Genetics, University Hospital Muenster 3 1 0 0 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 3 0 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 2 0 0 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 0 3 0 0 0 0 0 3
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 3 0 0 0 0 0 0 3
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 0 3 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 1 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 0 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 1 0 0 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 2 0 0 0 0 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 1 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 0 0 0 0 0 2
Undiagnosed Diseases Network, NIH 2 0 0 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 0 1 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 0 1 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 2 0 0 0 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 2 0 0 0 0 0 0 2
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 1 1 0 0 0 0 0 2
Department of Human Genetics, Hannover Medical School 0 2 0 0 0 0 0 2
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 0 2 0 0 0 0 0 2
Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital 2 0 0 0 0 0 0 2
Elsea Laboratory, Baylor College of Medicine 1 0 0 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 1 0 0 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 1 0 0 0 0 0 0 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 1 0 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 0 0 1
Seelig Lab, University of Washington 0 0 0 0 0 0 1 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 0 0 1
New York Genome Center 1 0 0 0 0 0 0 1
3billion 1 0 0 0 0 0 0 1
DASA 1 0 0 0 0 0 0 1
Department of Endocrinology and Genetics, Fuzhou Children’s Hospital of Fujian Medical University 0 0 1 0 0 0 0 1
Department of Genetics, Suzhou Beikang Medical Laboratory 0 1 0 0 0 0 0 1

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