ClinVar Miner

Variants studied for T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta

Included ClinVar conditions (4):
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
34 11 211 286 36 1 563

Gene and significance breakdown #

Total genes and gene combinations: 6
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CD3E 13 6 74 129 19 0 231
CD3D 11 4 73 91 6 0 182
CD247 9 1 61 66 11 1 146
ARCN1, ATP5MG, BCL9L, CD3D, CD3E, CD3G, CENATAC, CXCR5, DDX6, DPAGT1, FOXR1, H2AX, HMBS, HYOU1, IFT46, IL10RA, JAML, KMT2A, MPZL2, MPZL3, PHLDB1, RPS25, SCN2B, SCN4B, SLC37A4, TMEM25, TMPRSS4, TRAPPC4, TREH, TTC36, UBE4A, UPK2, VPS11 1 0 1 0 0 0 2
ABCG4, APOA1, APOA4, APOC3, ARCN1, ARHGEF12, ATP5MG, BACE1, BCL9L, C1QTNF5, C2CD2L, CBL, CCDC153, CD3D, CD3E, CD3G, CENATAC, CEP164, CXCR5, DDX6, DPAGT1, DSCAML1, FOXR1, FXYD2, FXYD6, FXYD6-FXYD2, GRIK4, H2AX, HINFP, HMBS, HYOU1, IFT46, IL10RA, JAML, KMT2A, MCAM, MFRP, MPZL2, MPZL3, NECTIN1, NHERF4, NLRX1, OAF, PAFAH1B2, PCSK7, PHLDB1, POU2F3, RNF214, RNF26, RPS25, SC5D, SCN2B, SCN4B, SIDT2, SIK3, SLC37A4, SORL1, TAGLN, TBCEL, TECTA, THY1, TLCD5, TMEM25, TMPRSS13, TMPRSS4, TRAPPC4, TREH, TRIM29, TTC36, UBE4A, UPK2, USP2, VPS11 0 0 1 0 0 0 1
ADCY10, CD247, CREG1, DCAF6, GPR161, MPC2, MPZL1, RCSD1, SFT2D2, TBX19, TIPRL 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 15
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 26 10 177 282 31 0 526
Illumina Laboratory Services, Illumina 0 0 34 3 8 0 45
OMIM 10 0 0 0 0 0 10
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 5 0 0 0 5
Revvity Omics, Revvity 0 1 3 0 0 0 4
Fulgent Genetics, Fulgent Genetics 1 2 0 1 0 0 4
Baylor Genetics 0 0 3 0 0 0 3
Department of Immunology, School of Medicine, Complutense University 2 0 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 1 0 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 2 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.