ClinVar Miner

Variants studied for Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 1

Coded as:
Minimum submission review status: Collection method:
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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
2 32 9 1 1 1 45

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
HSD17B4 2 32 9 1 1 1 45

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Myriad Genetics, Inc. 0 25 2 0 0 0 27
Fulgent Genetics, Fulgent Genetics 1 3 5 1 1 0 11
Elsea Laboratory, Baylor College of Medicine 1 1 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 1 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
New York Genome Center 0 0 1 0 0 0 1

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