ClinVar Miner

Variants studied for Pyruvate dehydrogenase E1-alpha deficiency

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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
46 11 32 13 46 144

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 total
PDHA1 45 10 21 11 28 111
MAP3K15, PDHA1 0 0 11 1 18 30
PDHX 0 1 0 1 0 2
ADGRG2, CDKL5, PDHA1, PHKA2, PPEF1, RS1 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 1 0 17 3 32 53
Invitae 14 0 10 8 17 49
OMIM 22 0 0 0 0 22
Institute of Human Genetics,Klinikum rechts der Isar 6 3 0 0 0 9
Baylor Genetics 4 0 2 0 0 6
Mendelics 2 0 0 2 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 1 1 0 0 3
SingHealth Duke-NUS Institute of Precision Medicine 0 3 0 0 0 3
Elsea Laboratory,Baylor College of Medicine 2 0 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 1 0 0 2
Genomic Medicine Lab, University of California San Francisco 1 1 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 0 1 0 0 1

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