ClinVar Miner

Variants studied for X-linked lymphoproliferative disease due to SH2D1A 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
35 9 38 23 21 121

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
SH2D1A 35 9 38 23 20 120
NTRK1, SH2D2A 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 16 4 24 20 10 74
Illumina Laboratory Services, Illumina 0 0 14 1 13 28
OMIM 13 0 0 0 0 13
Center for Human Genetics, Inc, Center for Human Genetics, Inc 1 2 0 0 0 3
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 2 1 3
Mendelics 2 0 0 0 0 2
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 0 1 0 0 2
Baylor Genetics 0 1 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 0 1 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 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
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 0 0 0 0 1
Diagnostic Genetics, Severance Hospital, 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

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