ClinVar Miner

Variants studied for Multiple acyl-CoA dehydrogenase deficiency

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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 not provided total
247 307 446 851 51 3 1746

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ETFDH 176 209 233 390 21 1 925
ETFA 41 64 130 284 21 1 505
ETFB 20 34 83 176 9 1 305
FLAD1 9 0 0 1 0 0 10
CD33, CLDND2, ETFB, IGLON5, LIM2, NKG7, SIGLECL1, VSIG10L 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 50
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 207 97 350 839 42 0 1535
Baylor Genetics 53 142 5 0 0 0 200
Fulgent Genetics, Fulgent Genetics 19 64 16 5 0 0 104
Illumina Laboratory Services, Illumina 1 1 48 5 11 0 66
Natera, Inc. 1 0 47 4 1 0 53
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 24 19 0 0 0 0 43
Revvity Omics, Revvity 12 6 8 0 0 0 26
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 2 5 4 10 0 21
3billion 5 3 4 0 0 0 12
Genome-Nilou Lab 1 0 4 0 6 0 11
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 4 5 2 0 0 0 11
Mendelics 5 4 0 0 2 0 11
Kariminejad - Najmabadi Pathology & Genetics Center 1 6 2 0 0 0 9
Research Unit for Molecular Medicine, Department for Clinical Medicine, Aarhus University 8 0 0 1 0 0 9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 6 2 0 0 0 0 8
Juno Genomics, Hangzhou Juno Genomics, Inc 6 1 0 0 0 0 7
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 2 4 0 0 0 7
MGZ Medical Genetics Center 1 2 3 0 0 0 6
SingHealth Duke-NUS Institute of Precision Medicine 0 2 3 1 0 0 6
Variantyx, Inc. 2 4 0 0 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 3 0 2 0 0 0 5
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 2 1 0 0 0 0 3
Department of Neurology, Second Xiangya Hospital of Central South University 1 2 0 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 1 1 0 0 3
First Genomix Gene Laboratory, Genetic Diagnostics Department 2 1 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 1 0 0 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 2 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 2 0 0 0 0 2
Department of Human Genetics, Hannover Medical School 2 0 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 1 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 1 0 2
Pars Genome Lab 0 0 0 0 2 0 2
Suma Genomics 1 1 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 1
Department of Endocrinology and Genetics, Fuzhou Children’s Hospital of Fujian Medical University 0 1 0 0 0 0 1
Department of Genetics, Sultan Qaboos University Hospital 1 0 0 0 0 0 1
Division of Neurology, Stellenbosch University 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Genetics Laboratory, Department of Biology, Semnan University 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 0 1
GenomeConnect - CureCADASIL 0 0 0 0 0 1 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1

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