ClinVar Miner

Variants in gene ETFDH

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
64 43 138 86 16 313

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Multiple acyl-CoA dehydrogenase deficiency 47 34 117 63 10 252
not provided 22 10 21 17 4 74
not specified 0 0 2 20 8 29
Glutaric acidemia IIC 6 0 0 0 0 6
Glutaric acidemia iic, late-onset 2 0 0 0 0 2
Glutaric acidemia type 2C 0 0 2 0 0 2
Inborn genetic diseases 2 0 0 0 0 2
Acyl-CoA dehydrogenase deficiency, glutaric acidemia type II 1 0 0 0 0 1
Distal spinal muscular atrophy 0 0 1 0 0 1
Hypertrophic cardiomyopathy 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 43 22 59 62 6 192
GeneDx 15 9 7 25 9 65
Natera, Inc. 6 2 37 2 0 47
Illumina Clinical Services Laboratory,Illumina 0 1 32 5 6 44
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 6 0 3 0 2 11
OMIM 8 0 0 0 0 8
Mendelics 3 4 0 0 1 8
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 4 1 7
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 5 0 0 0 0 5
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 4 0 0 5
Gharavi Laboratory,Columbia University 0 0 5 0 0 5
Fulgent Genetics,Fulgent Genetics 1 3 0 0 0 4
Baylor Genetics 0 2 0 0 0 2
Ambry Genetics 2 0 0 0 0 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 2 0 0 2
SingHealth Duke-NUS Institute of Precision Medicine 0 2 0 0 0 2
Institute of Human Genetics,Cologne University 0 0 1 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 1 0 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 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
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 1
Genetics and Genomics Program,Sidra Medicine 0 1 0 0 0 1

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