Variants studied for X-linked lymphoproliferative syndrome

Minimum submission review status:		Collection method:
Minimum conflict level:
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
42	4	74	8	70	195

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
XIAP	24	1	57	6	56	142
SH2D1A	18	3	17	2	14	53

Submitter and significance breakdown #

Total submitters: 13

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Clinical Services Laboratory,Illumina	0	0	50	4	64	118
Invitae	14	1	23	4	11	53
OMIM	22	0	0	0	0	22
Mendelics	3	0	0	0	1	4
Center for Human Genetics, Inc,Center for Human Genetics, Inc	1	2	0	0	0	3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	0	0	2	2
Integrated Genetics/Laboratory Corporation of America	2	0	0	0	0	2
Baylor Genetics	1	0	0	0	0	1
Fulgent Genetics,Fulgent Genetics	0	0	1	0	0	1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	1	0	0	0	1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center	0	0	1	0	0	1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen	0	0	0	0	1	1
Laboratory of Pediatric Immunoinfectivology,Tor Vergata University	1	0	0	0	0	1

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