ClinVar Miner

Variants studied for Peroxisome biogenesis disorder 12A (Zellweger)

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
9 9 207 146 24 380

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PEX19 9 9 206 146 24 379
ATP1A2, ATP1A4, CASQ1, COPA, DCAF8, DCAF8-DT, NCSTN, PEA15, PEX19 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 7 5 156 139 12 319
Illumina Laboratory Services, Illumina 0 0 51 5 14 70
Fulgent Genetics, Fulgent Genetics 0 0 3 3 0 6
Revvity Omics, Revvity 0 2 2 0 0 4
Baylor Genetics 0 0 3 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 2 1 0 0 3
OMIM 2 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 1 1
Genome-Nilou Lab 0 0 0 0 1 1

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