ClinVar Miner

Variants studied for T+ B+ severe combined immunodeficiency

Included ClinVar conditions (6):
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 14 652 1014 99 1 1803

Gene and significance breakdown #

Total genes and gene combinations: 11
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CARD11 23 12 360 495 60 1 938
IKBKB 17 2 176 383 24 0 598
CTPS1 1 0 95 114 14 0 223
IKBKB, LOC126860373 0 0 8 12 1 0 21
CTPS1, LOC126805717 0 0 7 10 0 0 17
AMZ1, BRAT1, CARD11, GNA12, IQCE, TTYH3 0 0 1 0 0 0 1
ANK1, AP3M2, CHRNA6, CHRNB3, DKK4, IKBKB, KAT6A, PLAT, POLB, SLC20A2, SMIM19, THAP1, VDAC3 0 0 1 0 0 0 1
AP3M2, IKBKB, KAT6A, PLAT 0 0 1 0 0 0 1
CARD11, LOC129997847 0 0 1 0 0 0 1
CHRNA6, CHRNB3, DKK4, FNTA, HGSNAT, HOOK3, IKBKB, POLB, POMK, RNF170, SLC20A2, SMIM19, THAP1, VDAC3 0 0 1 0 0 0 1
CTPS1, SCMH1, SLFNL1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 37 7 634 1012 96 0 1786
Fulgent Genetics, Fulgent Genetics 0 0 8 2 0 0 10
Genome-Nilou Lab 0 0 0 0 10 0 10
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 5 0 0 0 6
OMIM 5 0 0 0 0 0 5
Baylor Genetics 2 0 1 0 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 0 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 2 0 0 0 3
Mendelics 0 1 1 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 0 1 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 0 1
Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska" 0 1 0 0 0 0 1

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