ClinVar Miner

Variants in gene PEX26

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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 5 99 27 14 145

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Peroxisome biogenesis disorder 1A (Zellweger) 0 0 50 22 9 81
not provided 2 3 49 2 2 56
Peroxisome biogenesis disorder 7A 6 1 2 0 0 9
not specified 0 0 0 4 5 9
Peroxisome biogenesis disorder 7A; Peroxisome biogenesis disorder 7B 2 0 3 1 0 6
Peroxisome biogenesis disorder 7B 5 0 1 0 0 6
Peroxisome biogenesis disorders, Zellweger syndrome spectrum 2 1 0 0 0 3

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 1 52 22 9 84
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 0 45 4 5 56
OMIM 9 0 0 0 0 9
GeneDx 0 2 3 0 0 5
Integrated Genetics/Laboratory Corporation of America 2 1 0 0 1 4
Invitae 2 0 1 1 0 4
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 2 0 1 3
PreventionGenetics 0 0 0 0 2 2
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 2 0 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 0 0 1
Gharavi Laboratory,Columbia University 0 0 1 0 0 1

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