ClinVar Miner

Variants in gene ETFDH

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Minimum submission review status: Collection method:
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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 not provided total
158 172 285 397 30 1 919

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Multiple acyl-CoA dehydrogenase deficiency 149 154 232 362 21 0 827
not provided 22 22 40 42 11 1 135
Glutaric acidemia type 2C 9 5 23 3 1 0 41
not specified 0 0 19 11 8 0 38
Inborn genetic diseases 2 1 19 0 0 0 22
ETFDH-related condition 1 4 2 0 0 0 7
Glutaric acidemia IIc 6 1 0 0 0 0 7
Glutaric acidemia iic, late-onset 4 0 0 0 0 0 4
Abnormality of metabolism/homeostasis 1 1 0 0 0 0 2
Myopathy 0 0 2 0 0 0 2
See cases 0 0 2 0 0 0 2
Acyl-CoA dehydrogenase deficiency, glutaric acidemia type II 1 0 0 0 0 0 1
Distal spinal muscular atrophy 0 0 1 0 0 0 1
Hypertrophic cardiomyopathy 0 1 0 0 0 0 1
Megacolon 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 46
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 134 63 173 356 19 0 745
GeneDx 17 15 23 48 17 0 120
Baylor Genetics 40 73 0 0 0 0 113
Natera, Inc. 15 7 58 5 1 0 86
Illumina Laboratory Services, Illumina 0 1 32 5 6 0 44
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 13 6 17 0 0 0 36
Fulgent Genetics, Fulgent Genetics 4 9 10 2 0 0 25
Ambry Genetics 2 1 19 0 0 0 22
Revvity Omics, Revvity Omics 9 2 3 0 0 0 14
CeGaT Center for Human Genetics Tuebingen 0 5 5 4 0 0 14
Mayo Clinic Laboratories, Mayo Clinic 0 1 6 4 1 0 12
Eurofins Ntd Llc (ga) 6 0 3 0 2 0 11
OMIM 10 0 0 0 0 0 10
Mendelics 4 4 0 0 1 0 9
Preventiongenetics, part of Exact Sciences 1 4 2 0 0 0 7
3billion 2 1 4 0 0 0 7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 1 0 3 0 5
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 5 0 0 0 0 0 5
Gharavi Laboratory, Columbia University 0 0 5 0 0 0 5
Genome-Nilou Lab 1 0 3 0 1 0 5
MGZ Medical Genetics Center 1 1 2 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 1 0 0 0 0 3
Kariminejad - Najmabadi Pathology & Genetics Center 1 2 0 0 0 0 3
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 0 2 0 0 0 3
Department of Neurology, Second Xiangya Hospital of Central South University 1 2 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 0 0 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 0 2
SingHealth Duke-NUS Institute of Precision Medicine 0 2 0 0 0 0 2
Pars Genome Lab 0 0 0 0 2 0 2
Pediatric Department, Xiangya Hospital, Central South University 0 0 2 0 0 0 2
Suma Genomics 1 1 0 0 0 0 2
Human Genetics Bochum, Ruhr University Bochum 0 0 2 0 0 0 2
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
Clinical Genetics, Erasmus University Medical Center 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 1 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 0 0 0 1
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 1 1
Genetics and Genomics Program, Sidra Medicine 0 1 0 0 0 0 1
DASA 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1

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