Variants studied for Peroxisome biogenesis disorder 4A (Zellweger)

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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	35	47	4	21	119

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
PEX6	13	35	47	4	21	119

Submitter and significance breakdown #

Total submitters: 17

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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
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	3	0	0	0	0	3
Neuberg Centre For Genomic Medicine, NCGM	0	2	1	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
Payam Genetics Center, General Welfare Department of North Khorasan Province	0	1	0	0	0	1

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