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
13 5 149 24 37 206

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Peroxisome biogenesis disorder 7A 6 1 83 12 28 130
not provided 2 3 49 4 2 57
Peroxisome biogenesis disorder 7A; Peroxisome biogenesis disorder 7B 5 0 31 8 6 47
Peroxisome biogenesis disorder 1A (Zellweger) 0 0 6 0 3 9
not specified 0 0 0 4 5 9
Peroxisome biogenesis disorder 7B 5 0 1 0 0 6
Peroxisome biogenesis disorders, Zellweger syndrome spectrum 3 1 0 0 0 4
Iris coloboma; Broad hallux; Broad thumb; Macrocephalus; Dolichocephaly; Arnold-Chiari malformation; Sacral lipoma 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 1 89 12 30 132
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 0 45 4 5 56
Invitae 5 0 28 10 6 49
OMIM 9 0 0 0 0 9
GeneDx 0 2 3 0 0 5
Integrated Genetics/Laboratory Corporation of America 3 1 0 0 1 5
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 2 0 1 3
PreventionGenetics,PreventionGenetics 0 0 0 0 2 2
Elsea Laboratory,Baylor College of Medicine 0 0 2 0 0 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
Mendelics 0 0 0 0 1 1
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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 1
Gharavi Laboratory,Columbia University 0 0 1 0 0 1

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