ClinVar Miner

Variants studied for Omenn syndrome

Included ClinVar conditions (8):
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
41 84 297 39 54 1 480

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
DCLRE1C 12 55 114 18 20 0 208
RAG1 17 11 94 12 20 0 149
RAG2 12 17 87 9 12 0 117
IFTAP, RAG2 0 0 2 0 1 0 3
DCLRE1C, SUV39H2 0 0 0 0 1 1 2
IL7R 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 1 194 21 42 0 258
Natera, Inc. 8 2 72 15 16 0 113
Baylor Genetics 12 52 3 0 0 0 67
Fulgent Genetics, Fulgent Genetics 5 6 17 2 1 0 31
OMIM 19 0 0 0 0 0 19
Pediatric Immunology Service, The Chaim Sheba Medical Center at Tel HaShomer 0 10 8 0 1 0 19
Genome-Nilou Lab 0 0 10 1 6 0 17
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 9 2 0 0 13
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 2 0 0 0 0 5
3billion 0 4 1 0 0 0 5
Counsyl 0 1 1 1 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 0 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1

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