ClinVar Miner

Variants studied for acyl-CoA dehydrogenase deficiency

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
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 likely risk allele not provided total
487 514 850 1147 109 1 6 2740

Gene and significance breakdown #

Total genes and gene combinations: 12
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele not provided total
ETFDH 149 154 232 362 21 0 0 827
ACADM 228 212 203 267 36 0 2 780
ETFA 38 47 124 262 20 0 0 460
ACADS 43 75 208 104 24 1 4 388
ETFB 17 23 82 147 8 0 0 264
FLAD1 9 0 0 1 0 0 0 10
ACADM, LOC129930773 0 0 0 4 0 0 0 4
ECHDC1 0 3 0 0 0 0 0 3
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 0 1
ACADM, LOC129930772 0 0 1 0 0 0 0 1
CD33, CLDND2, ETFB, IGLON5, LIM2, NKG7, SIGLECL1, VSIG10L 1 0 0 0 0 0 0 1
MADD 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 64
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele not provided total
Invitae 423 172 586 1114 68 0 0 2363
Baylor Genetics 110 189 7 0 0 0 0 306
Natera, Inc. 36 13 103 20 18 0 0 190
Illumina Laboratory Services, Illumina 6 4 125 15 35 0 0 185
Counsyl 9 86 69 2 1 0 0 167
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 29 13 27 0 30 0 0 99
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 52 29 0 0 0 0 0 81
Genome-Nilou Lab 3 21 19 9 23 0 0 75
Fulgent Genetics, Fulgent Genetics 20 19 25 7 2 0 0 73
Revvity Omics, Revvity 27 20 23 0 0 0 0 70
OMIM 45 0 0 0 0 0 0 45
Myriad Genetics, Inc. 4 21 0 0 0 0 0 25
Mendelics 9 5 0 1 3 0 0 18
MGZ Medical Genetics Center 5 6 5 0 0 0 0 16
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 8 2 1 2 0 0 0 13
Research Unit for Molecular Medicine, Department for Clinical Medicine, Aarhus University 8 3 0 1 0 0 0 12
Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital 7 2 1 0 0 0 0 10
3billion 4 1 4 0 0 0 0 9
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 4 0 3 0 0 0 0 7
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 3 1 0 0 0 0 6
SingHealth Duke-NUS Institute of Precision Medicine 0 2 3 1 0 0 0 6
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 5 0 0 0 0 0 0 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 2 0 0 0 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 0 5 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 1 1 0 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 1 0 3 0 0 0 0 4
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 3 0 0 0 0 0 4
GeneReviews 0 0 0 0 0 0 3 3
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 2 1 0 0 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 0 1 0 0 0 0 3
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 3 0 0 0 0 0 0 3
Reproductive Health Research and Development, BGI Genomics 3 0 0 0 0 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 1 0 0 0 0 0 3
DASA 1 2 0 0 0 0 0 3
Department of Neurology, Second Xiangya Hospital of Central South University 1 2 0 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 1 0 0 0 0 3
Elsea Laboratory, Baylor College of Medicine 1 1 0 0 0 0 0 2
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 1 1 0 0 0 0 0 2
Undiagnosed Diseases Network, NIH 2 0 0 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 0 0 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 1 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 0 0 0 0 2
New York Genome Center 2 0 0 0 0 0 0 2
Pars Genome Lab 0 0 0 0 2 0 0 2
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 1 1 0 0 0 0 0 2
Suma Genomics 1 1 0 0 0 0 0 2
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 0 2 0 0 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 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
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 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 0 1
Institute of Human Genetics, University of Leipzig Medical Center 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 0 0 0 1 0 0 0 1
Genetics Laboratory, Department of Biology, Semnan University 0 1 0 0 0 0 0 1
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 0 0 0 0 1 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 0 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.