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
226 255 437 772 50 1597

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 155 173 231 362 21 847
ETFA 40 55 123 262 20 467
ETFB 20 27 83 147 9 271
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: 41
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 186 88 338 760 42 1414
Baylor Genetics 53 142 5 0 0 200
Illumina Laboratory Services, Illumina 2 1 54 6 11 74
Natera, Inc. 7 2 50 4 1 64
Fulgent Genetics, Fulgent Genetics 5 10 14 5 0 34
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 20 12 0 0 0 32
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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 3 3 0 0 7
3billion 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 3 1 0 0 0 4
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
Pars Genome Lab 0 0 0 0 2 2
Suma Genomics 1 1 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
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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