ClinVar Miner

Variants studied for hyper-IgM syndrome type 1

Included ClinVar conditions (2):
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 not provided total
74 19 64 70 35 2 257

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CD40LG 72 19 55 67 33 2 241
AICDA 0 0 3 0 2 0 5
CD40 0 0 4 0 0 0 4
UNG 0 0 2 2 0 0 4
ADGRG4, ARHGEF6, BRS3, CD40LG, FHL1, GPR101, HTATSF1, MAP7D3, RBMX, SLC9A6, VGLL1, ZIC3 1 0 0 0 0 0 1
CD40, LOC127893450 0 0 0 1 0 0 1
CD40LG, LOC130068753 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 54 8 52 66 33 0 213
OMIM 15 0 0 0 0 0 15
Illumina Laboratory Services, Illumina 0 0 9 3 2 0 14
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 4 0 0 0 0 7
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 2 0 0 0 0 3
GeneReviews 0 0 0 0 0 2 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 2
Lifecell International Pvt. Ltd 0 2 0 0 0 0 2
3billion 1 1 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 0 1 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 0 0 1
Revvity Omics, Revvity 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Fulgent Genetics, Fulgent Genetics 1 0 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 0 0 1
Department of Immunology, University Hospital Southampton NHSFT 1 0 0 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Molecular Oncology, MVR Cancer Centre and Research Institute 1 0 0 0 0 0 1

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