ClinVar Miner

Variants studied for Medium-chain acyl-coenzyme A dehydrogenase deficiency

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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
229 212 204 271 36 2 786

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ACADM 228 212 203 267 36 2 780
ACADM, LOC129930773 0 0 0 4 0 0 4
ACADM, ASB17, LOC101927342, LOC129930768, LOC129930769, LOC129930770, LOC129930771, LOC129930772, LOC129930773, LOC129930774, LOC129930775, LOC129930776, LOC129930777, LOC129930778, LOC129930779, LOC129930780, MSH4, RABGGTB, SLC44A5, SNORD45A, SNORD45B, SNORD45C, ST6GALNAC3 1 0 0 0 0 0 1
ACADM, LOC129930772 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 45
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 212 63 106 258 12 0 651
Baylor Genetics 61 75 1 0 0 0 137
Natera, Inc. 29 11 53 16 17 0 126
Counsyl 7 53 33 2 1 0 96
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 29 12 25 0 20 0 86
Illumina Laboratory Services, Illumina 2 1 32 7 10 0 52
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 31 16 0 0 0 0 47
Revvity Omics, Revvity 10 12 9 0 0 0 31
Fulgent Genetics, Fulgent Genetics 10 6 4 2 0 0 22
OMIM 15 0 0 0 0 0 15
Myriad Genetics, Inc. 3 12 0 0 0 0 15
Genome-Nilou Lab 0 0 2 1 11 0 14
MGZ Medical Genetics Center 3 2 2 0 0 0 7
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 2 0 0 0 0 5
Mendelics 4 1 0 0 0 0 5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 4 1 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 1 1 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 0 0 0 0 0 3
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 3 0 0 0 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 1 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 1 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 0 0 0 0 2
Undiagnosed Diseases Network, NIH 2 0 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 0 1 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 0 0 0 2
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 1 1 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 2 0 0 0 0 0 2
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 0 2 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 2
Elsea Laboratory, Baylor College of Medicine 1 0 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 1 0 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 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 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 1
New York Genome Center 1 0 0 0 0 0 1
3billion 1 0 0 0 0 0 1
DASA 1 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 1

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