ClinVar Miner

Variants studied for Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency

Included ClinVar conditions (1):
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
47 8 247 178 35 1 482

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 not provided total
IL12RB1 46 8 245 178 34 1 478
IL12RB1, LOC130063972 0 0 2 0 1 0 3
IL12RB1, LOC112543464 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 35 4 207 175 33 0 454
Illumina Laboratory Services, Illumina 0 0 47 8 19 0 74
OMIM 8 0 0 0 0 0 8
Genome-Nilou Lab 0 0 0 0 5 0 5
Neuberg Centre For Genomic Medicine, NCGM 2 1 2 0 0 0 5
Baylor Genetics 0 0 3 0 0 0 3
Fulgent Genetics, Fulgent Genetics 1 0 1 1 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 1 0 0 3
New York Genome Center 0 0 3 0 0 0 3
3billion 3 0 0 0 0 0 3
Revvity Omics, Revvity 0 2 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 1 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Mendelics 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Watson Genetic Lab 1 0 0 0 0 0 1

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