ClinVar Miner

Variants in gene CIITA

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Minimum submission review status: Collection method:
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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 risk factor not provided total
63 27 627 981 81 1 30 1695

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
MHC class II deficiency 58 20 553 961 81 0 1 1592
Inborn genetic diseases 0 0 105 12 0 0 0 117
not provided 1 2 21 12 44 0 29 101
CIITA-related disorder 0 0 5 19 5 0 0 29
MHC class II deficiency; Rheumatoid arthritis 0 0 17 0 1 0 0 18
Rheumatoid arthritis; MHC class II deficiency 1 0 7 11 0 0 0 0 18
not specified 0 0 5 2 11 0 0 17
MHC class II deficiency 1 7 1 0 0 0 0 0 8
Rheumatoid arthritis 0 1 2 0 0 1 0 4
Hodgkin lymphoma, susceptibility to 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 58 17 416 941 61 0 0 1493
Natera, Inc. 1 2 159 48 30 0 0 240
Illumina Laboratory Services, Illumina 0 0 104 6 31 0 0 141
Ambry Genetics 0 0 105 12 0 0 0 117
Breakthrough Genomics, Breakthrough Genomics 0 0 12 6 43 0 0 61
PreventionGenetics, part of Exact Sciences 0 0 5 19 5 0 0 29
Fulgent Genetics, Fulgent Genetics 0 7 19 0 1 0 0 27
Human Evolutionary Genetics, Institut Pasteur 0 0 0 0 0 0 25 25
Genome-Nilou Lab 0 0 2 0 22 0 0 24
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 0 0 10 0 0 12
CeGaT Center for Human Genetics Tuebingen 0 0 2 8 0 0 0 10
GeneDx 0 1 5 1 2 0 0 9
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 9 0 0 0 0 9
OMIM 7 0 0 0 0 1 0 8
Baylor Genetics 0 0 6 0 0 0 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 4 1 0 0 0 6
GenomeConnect, ClinGen 0 0 0 0 0 0 4 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 2 1 1 0 0 4
Revvity Omics, Revvity 0 2 1 0 0 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 1 0 0 0 0 2
Blueprint Genetics 0 1 1 0 0 0 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 2 0 0 0 0 2
New York Genome Center 0 0 2 0 0 0 0 2
Mendelics 0 1 0 0 0 0 0 1
Eurofins Ntd Llc (ga) 1 0 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 0 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 0 1 0 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 1 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 0 1

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