ClinVar Miner

Variants studied for Peroxisome biogenesis disorder 4A (Zellweger); Peroxisome biogenesis disorder 4B; Heimler syndrome 2

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
14 42 19 3 1 1 77

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
PEX6 14 42 19 3 1 1 77

Submitter and significance breakdown #

Total submitters: 7
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 11 39 17 3 1 0 71
Department of Pathology and Laboratory Medicine, Sinai Health System 1 2 2 0 0 0 5
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 2 0 0 0 0 3
Institute of Immunology and Genetics Kaiserslautern 2 0 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 0 0 0 0 2
Baylor Genetics 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1

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