ClinVar Miner

Variants studied for autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency

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
11 1 11 9 10 39

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
IFNGR1 11 1 11 3 7 33
IL12RB1 0 0 0 4 3 4
IFNGR2 0 0 0 2 0 2

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 0 1 9 3 7 20
OMIM 10 0 0 0 0 10
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 6 0 6
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 3 1 4
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 2 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 0 0 1 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 1

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