ClinVar Miner

Variants studied for Pyruvate dehydrogenase E3-binding 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 not provided total
15 11 54 12 36 2 127

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PDHX 12 9 44 7 25 2 97
LOC130005549, PDHX 3 2 6 2 6 0 18
APIP, LOC130005547, PDHX 0 0 4 2 5 0 11
LOC130005548, PDHX 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 38 9 35 0 82
OMIM 11 0 0 0 0 0 11
Revvity Omics, Revvity 1 1 7 0 0 0 9
Baylor Genetics 0 1 5 0 0 0 6
Fulgent Genetics, Fulgent Genetics 0 1 3 2 0 0 6
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 4 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 2 0 0 0 0 4
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 0 1 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 1 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
3billion 1 0 0 1 0 0 2
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 0 1
Ege University Pediatric Genetics, Ege University 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1

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