Variants studied for peroxisome biogenesis disorder 9B

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
64	44	165	285	24	560

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
PEX7	63	44	165	285	24	559
AHI1, BCLAF1, IFNGR1, IL20RA, IL22RA2, LINC02539, MAP3K5, MAP7, MTFR2, OLIG3, PDE7B, PEX7, SLC35D3, TNFAIP3	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 14

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	62	12	140	279	17	510
Baylor Genetics	17	31	1	0	0	49
Illumina Laboratory Services, Illumina	0	0	28	5	4	37
Fulgent Genetics, Fulgent Genetics	5	1	6	1	0	13
OMIM	7	0	0	0	0	7
Genome-Nilou Lab	0	0	1	1	4	6
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	2	0	0	0	2
Centre for Mendelian Genomics, University Medical Centre Ljubljana	2	0	0	0	0	2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	1	1	0	0	0	2
Institute of Human Genetics, University of Goettingen	0	0	1	0	0	1
Division of Human Genetics, Children's Hospital of Philadelphia	1	0	0	0	0	1
Knight Diagnostic Laboratories, Oregon Health and Sciences University	1	0	0	0	0	1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	0	1	0	0	0	1
Juno Genomics, Hangzhou Juno Genomics, Inc	0	1	0	0	0	1

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