ClinVar Miner

Variants studied for multiple acyl-CoA dehydrogenase deficiency

Included ClinVar conditions (5):
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 total
241 295 443 817 50 1688

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ETFDH 166 200 234 379 21 895
ETFA 43 62 126 272 20 487
ETFB 21 33 83 165 9 294
FLAD1 9 0 0 1 0 10
CD33, CLDND2, ETFB, IGLON5, LIM2, NKG7, SIGLECL1, VSIG10L 1 0 0 0 0 1
MADD 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 44
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 198 94 345 805 42 1484
Baylor Genetics 53 142 5 0 0 200
Fulgent Genetics, Fulgent Genetics 19 64 16 5 0 104
Illumina Laboratory Services, Illumina 2 1 54 6 11 74
Natera, Inc. 7 2 50 4 1 64
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 23 13 0 0 0 36
Revvity Omics, Revvity 11 6 7 0 0 24
OMIM 14 0 0 0 0 14
Mendelics 5 4 0 0 2 11
Genome-Nilou Lab 1 0 4 0 6 11
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 2 0 6 9
Research Unit for Molecular Medicine, Department for Clinical Medicine, Aarhus University 8 0 0 1 0 9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 6 2 0 0 0 8
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 3 3 0 0 8
3billion, Medical Genetics 2 1 4 0 0 7
MGZ Medical Genetics Center 1 2 3 0 0 6
SingHealth Duke-NUS Institute of Precision Medicine 0 2 3 1 0 6
Juno Genomics, Hangzhou Juno Genomics, Inc 4 1 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 2 0 2 0 0 4
Department of Neurology, Second Xiangya Hospital of Central South University 1 2 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 2 0 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 1 0 0 0 2
Pars Genome Lab 0 0 0 0 2 2
Suma Genomics 1 1 0 0 0 2
Department of Human Genetics, Hannover Medical School 2 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 1
Genetics Laboratory, Department of Biology, Semnan University 0 1 0 0 0 1
DASA 0 1 0 0 0 1
Department of Endocrinology and Genetics, Fuzhou Children’s Hospital of Fujian Medical University 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 0 0 0 0 1

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