ClinVar Miner

Variants in gene PEX5

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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
13 3 217 62 25 291

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Peroxisome biogenesis disorder 2B 8 0 95 42 9 153
Peroxisome biogenesis disorder 2A (Zellweger) 3 0 83 9 11 106
not provided 5 3 75 14 5 98
Peroxisome biogenesis disorder 1A (Zellweger) 0 0 8 1 3 12
not specified 0 0 0 4 2 6
Microcephaly 0 0 3 0 0 3
Peroxisome biogenesis disorder 2B; Peroxisome biogenesis disorder 2A (Zellweger); Rhizomelic chondrodysplasia punctata type 5 0 0 3 0 0 3
Peroxisome biogenesis disorder 2B; Peroxisome biogenesis disorder 2A (Zellweger) 0 0 1 0 0 1
Rhizomelic chondrodysplasia punctata 1 0 0 0 0 1
Rhizomelic chondrodysplasia punctata type 5 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 7 0 94 49 9 159
Illumina Clinical Services Laboratory,Illumina 0 0 88 10 12 110
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 69 1 0 71
GeneDx 4 3 2 0 0 9
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 2 5 9
Baylor Genetics 2 0 3 0 0 5
PreventionGenetics, PreventionGenetics 0 0 0 3 1 4
OMIM 3 0 0 0 0 3
Elsea Laboratory,Baylor College of Medicine 0 0 3 0 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 2 0 1 3
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 1 0 3
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 3 0 0 3
Mendelics 0 0 0 0 2 2
Integrated Genetics/Laboratory Corporation of America 0 0 0 0 1 1
Department of Medical Genetics, Oslo University Hospital 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 1
Gharavi Laboratory,Columbia University 0 0 1 0 0 1

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