Variants studied for Peroxisome biogenesis disorder 3A (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
88	29	203	169	12	474

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
PEX12	87	29	202	169	12	472
AP2B1, FNDC8, GAS2L2, NLE1, PEX12, RAD51D, RASL10B, SLC35G3, SLFN11, SLFN12, SLFN12L, SLFN13, SLFN14, SLFN5, UNC45B	1	0	0	0	0	1
AP2B1, GAS2L2, PEX12, RASL10B, SLC35G3, SLFN11, SLFN12, SLFN12L, SLFN13, SLFN14, SLFN5, UNC45B	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 12

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	85	0	168	167	4	424
Illumina Laboratory Services, Illumina	1	0	35	2	9	47
Baylor Genetics	14	27	1	0	0	42
OMIM	7	0	0	0	0	7
Counsyl	1	2	0	0	0	3
Genomic Research Center, Shahid Beheshti University of Medical Sciences	1	1	1	0	0	3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	1	1	0	0	0	2
Myriad Genetics, Inc.	2	0	0	0	0	2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	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
New York Genome Center	0	1	0	0	0	1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	1	0	0	0	0	1

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