ClinVar Miner

Variants studied for Bare lymphocyte syndrome 2

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 0 170 46 43 243

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic uncertain significance likely benign benign total
CIITA 1 90 25 25 131
RFX5 0 39 5 9 48
RFXAP 2 30 12 5 45
RFXANK 1 10 4 2 16
NR2C2AP, RFXANK 0 1 0 2 3

Submitter and significance breakdown #

Total submitters: 6
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Submitter pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 108 26 11 145
Invitae 3 61 19 32 115
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 4 0 0 4
Quest Diagnostics Nichols Institute San Juan Capistrano 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 1 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 1

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