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
93 19 187 99 113 494

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
XIAP 54 10 142 69 91 355
SH2D1A 38 9 44 30 21 136
GRIA3, SH2D1A, STAG2, THOC2, XIAP 1 0 0 0 0 1
GRIA3, THOC2, XIAP 0 0 1 0 0 1
NTRK1, SH2D2A 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 59 8 128 92 52 339
Illumina Laboratory Services, Illumina 0 0 52 4 67 123
OMIM 21 0 0 0 0 21
Mendelics 5 0 0 0 1 6
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 1 2 4
Baylor Genetics 1 1 1 0 0 3
Center for Human Genetics, Inc, Center for Human Genetics, Inc 1 2 0 0 0 3
Aleixo Muise Laboratory, Hospital For Sick Children 3 0 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 2 1 0 0 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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 2
Fulgent Genetics, Fulgent Genetics 0 0 1 1 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 0 0 1 2
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 0 2
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 0 1 0 0 2
Genome-Nilou Lab 0 0 0 0 2 2
3billion 0 0 1 1 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 1
Revvity Omics, Revvity 0 0 1 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 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
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 1 0 0 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
Paediatric Laboratory, Institute for Maternal and Child Health - IRCCS Burlo Garofolo 0 0 1 0 0 1
Guangxi Key Laboratory of Thalassemia Research, Guangxi Medical University 1 0 0 0 0 1

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