ClinVar Miner

Variants studied for Peroxisome biogenesis disorder 1B

Coded as:
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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
6 43 12 1 4 65

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PEX1 3 31 7 1 4 45
GATAD1, PEX1 2 10 5 0 0 17
LOC129998796, PEX1 1 2 0 0 0 3

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Counsyl 2 42 0 0 0 44
Genome-Nilou Lab 0 0 8 1 4 13
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 2 0 0 3
Baylor Genetics 1 0 1 0 0 2
Centogene AG - the Rare Disease Company 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 1
Myriad Genetics, Inc. 1 0 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 1 0 0 0 1

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