ClinVar Miner

Variants studied for Multiple acyl-CoA dehydrogenase deficiency

Coded as:
Minimum submission review status: Collection method:
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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 total
211 224 439 772 50 1564

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ETFDH 149 154 232 362 21 827
ETFA 36 47 124 262 20 460
ETFB 14 23 83 147 9 264
FLAD1 9 0 0 1 0 10
CD33, CLDND2, ETFB, IGLON5, LIM2, NKG7, SIGLECL1, VSIG10L 1 0 0 0 0 1
CFTR 1 0 0 0 0 1
TP53 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 178 87 338 760 42 1405
Baylor Genetics 47 114 5 0 0 166
Illumina Laboratory Services, Illumina 1 1 55 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 9 0 0 0 29
Revvity Omics, Revvity 11 6 7 0 0 24
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
3billion 2 1 4 0 0 7
MGZ Medical Genetics Center 1 2 3 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 2 0 0 0 6
SingHealth Duke-NUS Institute of Precision Medicine 0 2 3 1 0 6
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 1 2 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
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 1 1 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
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
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 0 0 1 0 0 1
Genetics Laboratory, Department of Biology, Semnan 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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