ClinVar Miner

Variants studied for X-linked hyper-IgM syndrome

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 total
18 7 3 0 7 34

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
CD40LG 18 7 3 7 34

Submitter and significance breakdown #

Total submitters: 7
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Submitter pathogenic likely pathogenic uncertain significance benign total
OMIM 14 0 0 0 14
Invitae 2 3 3 5 13
Integrated Genetics/Laboratory Corporation of America 2 3 0 0 5
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 2 2
Fulgent Genetics 1 0 0 0 1
Department of Immunology,University Hospital Southampton NHSFT 1 0 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 1 0 0 1

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