Variants studied for Peroxisome biogenesis disorder 5A (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
49	27	211	146	23	435

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
PEX2	49	27	211	146	23	435

Submitter and significance breakdown #

Total submitters: 10

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Invitae	47	0	149	133	7	336
Illumina Laboratory Services, Illumina	0	0	64	11	18	93
Baylor Genetics	6	25	1	0	0	32
Genome-Nilou Lab	0	0	5	3	1	9
OMIM	3	0	0	0	0	3
Counsyl	0	2	0	0	0	2
Pars Genome Lab	0	0	2	0	0	2
Centogene AG - the Rare Disease Company	0	1	0	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	1	0	0	0	0	1
Myriad Genetics, Inc.	1	0	0	0	0	1

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