ClinVar Miner

Variants studied for Peroxisome biogenesis disorder 4A (Zellweger)

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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 37 48 4 21 122

Gene and significance breakdown #

Total genes and gene combinations: 1
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PEX6 13 37 48 4 21 122

Submitter and significance breakdown #

Total submitters: 19
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 1 3 42 4 17 67
Myriad Genetics, Inc. 0 20 0 0 0 20
Genome-Nilou Lab 0 0 1 0 10 11
OMIM 6 0 0 0 0 6
Johns Hopkins Genomics, Johns Hopkins University 2 3 1 0 0 6
Mendelics 2 1 0 0 2 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 2 1 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 0 2 2 0 0 4
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 0 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 2 0 0 0 3
Centre de Genetique Humaine, Institut de Pathologie et de Genetique 0 2 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 1 0 0 2
Wangler Lab, Baylor College of Medicine 0 2 0 0 0 2
3billion 0 2 0 0 0 2
Counsyl 1 0 0 0 0 1
Sema4, Sema4 0 1 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 1 0 0 1
Next Generation Genetic Polyclinic 0 1 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 0 1 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.