Variants studied for Zellweger spectrum disorders

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	not provided	total
219	60	608	870	92	1	1794

Gene and significance breakdown #

Total genes and gene combinations: 9

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
PEX1	136	36	321	577	39	0	1066
GATAD1, PEX1	52	15	106	242	16	1	419
PEX6	6	5	85	14	19	0	129
PEX10	7	0	56	11	11	0	85
LOC129998796, PEX1	13	0	11	22	1	0	47
PEX2	5	1	29	4	5	0	44
PEX19	0	2	0	0	0	0	2
LOC129998796, PEX1, RBM48	0	0	0	0	1	0	1
PEX5	0	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 5

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Labcorp Genetics (formerly Invitae), Labcorp	200	47	401	825	57	0	1530
Natera, Inc.	38	16	277	71	58	0	460
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	3	0	0	0	0	3
Genetics Institute, Tel Aviv Sourasky Medical Center	1	0	0	0	0	0	1
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	1	1

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