ClinVar Miner

Variants studied for Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency

Included ClinVar conditions (3):
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
15 3 43 13 17 87

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
IFNGR1 14 3 43 7 14 80
IL12RB1 0 0 0 4 3 4
IFNGR2 0 0 0 2 0 2
BCLAF1, IFNGR1, IL20RA, IL22RA2, MAP3K5, MAP7, MTFR2, PDE7B, PEX7, SLC35D3 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 36 7 14 57
OMIM 10 0 0 0 0 10
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 6 0 6
Mendelics 2 1 1 0 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 3 1 4
Labcorp Genetics (formerly Invitae), Labcorp 1 0 2 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 3
Fulgent Genetics, Fulgent Genetics 1 0 0 0 1 2
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 1 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
3billion 0 0 1 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 1

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