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
512 564 851 1148 110 1 6 2802

Gene and significance breakdown #

Total genes and gene combinations: 14
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele not provided total
ETFDH 155 173 231 362 21 0 0 847
ACADM 240 227 204 267 36 0 2 803
ETFA 40 55 123 262 20 0 0 467
ACADS 44 79 208 105 24 1 4 391
ETFB 20 27 83 147 9 0 0 271
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
ABCB9, ACADS, ANAPC5, ARL6IP4, ATP6V0A2, B3GNT4, BCL7A, BICDL1, C12orf43, CABP1, CAMKK2, CCDC62, CDK2AP1, CFAP251, CIT, CLIP1, COQ5, COX6A1, DDX55, DENR, DIABLO, DYNLL1, EIF2B1, GATC, GCN1, GTF2H3, HCAR1, HCAR2, HCAR3, HIP1R, HNF1A, HPD, IL31, KDM2B, KMT5A, KNTC1, LRRC43, MLEC, MLXIP, MORN3, MPHOSPH9, MSI1, MTRFR, OASL, OGFOD2, ORAI1, P2RX4, P2RX7, PITPNM2, PLA2G1B, POP5, PSMD9, PXN, RAB35, RHOF, RILPL1, RILPL2, RNF10, RNF34, RPLP0, RSRC2, SBNO1, SETD1B, SIRT4, SNRNP35, SPPL3, SRSF9, TCTN2, TMED2, TMEM120B, TRIAP1, UNC119B, VPS33A, VPS37B, ZCCHC8 0 0 1 0 0 0 0 1
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
ACADS, HNF1A, SPPL3 1 0 0 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: 71
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele not provided total
Labcorp Genetics (formerly Invitae), Labcorp 438 175 587 1114 68 0 0 2382
Baylor Genetics 124 228 7 0 0 0 0 359
Natera, Inc. 36 13 103 20 18 0 0 190
Illumina Laboratory Services, Illumina 7 5 123 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 58 33 0 0 0 0 0 91
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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 3 10 5 1 0 0 0 18
MGZ Medical Genetics Center 5 6 5 0 0 0 0 16
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 11 2 1 2 0 0 0 16
Research Unit for Molecular Medicine, Department for Clinical Medicine, Aarhus University 8 3 0 1 0 0 0 12
Neuberg Centre For Genomic Medicine, NCGM 6 0 5 0 0 0 0 11
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 7 3 0 0 0 0 0 10
Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital 7 2 1 0 0 0 0 10
Juno Genomics, Hangzhou Juno Genomics, Inc 5 4 0 0 0 0 0 9
3billion 4 1 4 0 0 0 0 9
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 4 3 0 0 0 0 0 7
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 6 0 0 0 0 0 0 6
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
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
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 3 0 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
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 2 0 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 2 0 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
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
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 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 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
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 0 0 1
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 0 0 0 0 1 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 0 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
Medical Laboratory Center, Huzhou Maternal and Child Health Hospital 1 0 0 0 0 0 0 1
Department of Genetics, Suzhou Beikang Medical Laboratory 0 1 0 0 0 0 0 1

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