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
35 8 10 0 0 53

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
PDHA1 35 7 10 52
PDHX 0 1 0 1

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance total
OMIM 22 0 0 22
Invitae 6 0 7 13
Baylor Miraca Genetics Laboratories, 4 0 2 6
Institute of Human Genetics,Klinikum rechts der Isar 3 2 0 5
SingHealth Duke-NUS Institute of Precision Medicine 0 3 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 2
Mendelics 1 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 1 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 1
Laboratoire de Cytogenetique,Hospices Civils de Lyon 1 0 0 1
Laboratory of Medical Genetics,National & Kapodistrian University of Athens 0 1 0 1

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