ClinVar Miner

Variants studied for Pyruvate dehydrogenase E1-beta 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
11 0 32 69 21 127

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic uncertain significance likely benign benign total
PDHB 11 32 69 21 127

Submitter and significance breakdown #

Total submitters: 6
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Submitter pathogenic uncertain significance likely benign benign total
Invitae 1 9 65 9 84
Illumina Clinical Services Laboratory,Illumina 0 21 4 8 33
OMIM 11 0 0 0 11
Pars Genome Lab 0 0 0 7 7
Nilou-Genome Lab 0 4 0 0 4
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 1 0 0 1

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