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
77 11 169 82 109 436

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
XIAP 43 5 131 59 88 319
SH2D1A 33 6 38 23 20 115
GRIA3, SH2D1A, STAG2, THOC2, XIAP 1 0 0 0 0 1
NTRK1, SH2D2A 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 46 5 111 76 48 286
Illumina Laboratory Services, Illumina 0 0 52 4 67 123
OMIM 21 0 0 0 0 21
Mendelics 5 0 0 0 1 6
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 1 0 2 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 1 0 0 3
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 2 1 3
Baylor Genetics 1 0 1 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 0 0 0 2
Fulgent Genetics, Fulgent Genetics 0 0 1 1 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 0 2
Genome-Nilou Lab 0 0 0 0 2 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 1 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 1
Revvity Omics, Revvity 0 0 1 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 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
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 1 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 1
Laboratory of Pediatric Immunoinfectivology, Tor Vergata University 1 0 0 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 1 0 0 0 0 1
Department of Laboratory Medicine, Yonsei University College of Medicine 1 0 0 0 0 1
3billion 0 0 1 0 0 1
Department of Neurology, Hunan Children's Hospital 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 1

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