ClinVar Miner

Variants studied for X-linked lymphoproliferative syndrome

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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
34 3 6 2 6 50

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 16 0 5 2 5 27
SH2D1A 18 3 1 0 1 23

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
OMIM 22 0 0 0 0 22
Invitae 9 0 5 2 5 21
Center for Human Genetics, Inc 1 2 0 0 0 3
Integrated Genetics/Laboratory Corporation of America 2 0 0 0 0 2
Baylor Miraca Genetics Laboratories, 1 0 0 0 0 1
Fulgent Genetics 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology,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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