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
38 66 294 39 54 1 457

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 10 37 111 18 20 0 185
RAG1 16 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: 21
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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 10 34 2 0 0 0 46
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 1 1 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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 0 1

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