ClinVar Miner

Variants studied for Immunodeficiency 14

Coded as:
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
4 0 35 8 18 65

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic uncertain significance likely benign benign total
PIK3CD 4 35 8 18 65

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic uncertain significance likely benign benign total
Invitae 1 35 8 18 62
OMIM 4 0 0 0 4
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 1 0 0 1
Department of Medicine, University of Cambridge 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 1 0 0 0 1

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