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
7 3 126 12 9 152

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 5 3 73 2 5 88
Peroxisome biogenesis disorder 1A (Zellweger) 0 0 60 7 3 70
Neonatal adrenoleucodystrophy 2 0 2 0 1 5
not specified 0 0 0 4 1 5
Peroxisome biogenesis disorder 2A (Zellweger) 2 0 0 0 0 2
Neonatal adrenoleucodystrophy; Peroxisome biogenesis disorder 2A (Zellweger); Rhizomelic chondrodysplasia punctata type 5 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: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 69 1 0 71
Illumina Clinical Services Laboratory,Illumina 0 0 60 7 3 70
GeneDx 4 3 2 0 0 9
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 2 2 5 9
PreventionGenetics 0 0 0 3 1 4
Invitae 1 0 2 0 1 4
OMIM 3 0 0 0 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 2 0 1 3
Department of Medical Genetics,Oslo University Hospital 1 0 0 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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