ClinVar Miner

Variants studied for medium chain acyl-CoA dehydrogenase deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
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
241 225 205 271 36 2 808

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 240 225 204 267 36 2 802
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: 46
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 218 64 106 258 12 0 658
Baylor Genetics 68 86 1 0 0 0 155
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 33 17 0 0 0 0 50
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 of Medical Genetics, National & Kapodistrian University of Athens 4 3 0 0 0 0 7
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 5 1 0 0 0 6
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 2 0 0 0 0 5
Mendelics 4 1 0 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 3 0 2 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
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 1 1 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
Institute of Human Genetics, University Hospital Muenster 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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