ClinVar Miner

Variants studied for SHORT syndrome; Agammaglobulinemia 7, autosomal recessive; Immunodeficiency 36

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 not provided total
6 0 14 4 7 1 32

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic uncertain significance likely benign benign not provided total
PIK3R1 6 14 4 7 1 32

Submitter and significance breakdown #

Total submitters: 4
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Submitter pathogenic uncertain significance likely benign benign not provided total
Invitae 6 13 4 7 0 30
Fulgent Genetics,Fulgent Genetics 1 1 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 0 0 0 1

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