ClinVar Miner

Variants studied for X-linked lymphoproliferative disease due to XIAP deficiency

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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
47 5 133 60 88 325

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
XIAP 46 5 132 60 88 323
GRIA3, SH2D1A, STAG2, THOC2, XIAP 1 0 0 0 0 1
GRIA3, THOC2, XIAP 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 34 3 89 56 38 220
Illumina Laboratory Services, Illumina 0 0 38 3 54 95
OMIM 8 0 0 0 0 8
Mendelics 3 0 0 0 1 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 2 3
Neuberg Centre For Genomic Medicine, NCGM 1 0 2 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 1 0 0 3
Baylor Genetics 1 0 1 0 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
Revvity Omics, Revvity 0 0 1 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 0 0 1 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
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
3billion 0 0 0 1 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 1

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