ClinVar Miner

Variants studied for Mitochondrial trifunctional protein deficiency

Coded as:
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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
63 54 177 231 34 539

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 total
HADHB 50 49 127 225 22 453
GAREM2, HADHA 9 3 32 2 9 55
HADHA 2 2 16 2 2 24
HADHA, HADHB 1 0 2 2 1 6
ADGRF3, DRC1, HADHB, OTOF, SELENOI 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 44 19 104 220 17 404
Illumina Laboratory Services, Illumina 0 0 73 11 26 110
Baylor Genetics 5 22 1 0 0 28
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 7 9 0 0 0 16
OMIM 5 0 0 0 0 5
Mendelics 3 1 0 0 1 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 2 0 0 4
Fulgent Genetics, Fulgent Genetics 1 1 1 0 0 3
Department of Medical Genetics, University Hospital of North Norway 0 0 3 0 0 3
The Molecular Genetic and Pathologic Diagnosis Center of Neuromuscular Disorder, Children's Hospital of Fudan University 0 3 0 0 0 3
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 1 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 1 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 1 0 0 0 2
Genome-Nilou Lab 0 0 1 1 0 2
Vockley Lab, University of Pittsburgh 2 0 0 0 0 2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 1 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 1 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 1 0 0 0 0 1
3billion 0 1 0 0 0 1
Children's Medical Center, Molecular Pathology and Cytogenetics Lab, Tehran University of Medical Sciences 0 0 1 0 0 1

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