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
54 15 38 63 61 220

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 53 14 27 61 43 187
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: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 14 0 11 58 36 119
Illumina Clinical Services Laboratory,Illumina 1 0 17 3 32 53
OMIM 23 0 0 0 0 23
Baylor Genetics 8 0 4 0 0 12
Institute of Human Genetics, Klinikum rechts der Isar 7 3 0 0 0 10
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 2 3 0 0 6
Mendelics 2 0 0 2 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 1 1 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 2 1 0 0 0 3
SingHealth Duke-NUS Institute of Precision Medicine 0 3 0 0 0 3
Genomics England Pilot Project,Genomics England 2 1 0 0 0 3
Elsea Laboratory,Baylor College of Medicine 2 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 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
Daryl Scott Lab,Baylor College of Medicine 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 Services, CSIR - Centre for Cellular and Molecular Biology 0 0 1 0 0 1

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