ClinVar Miner

Variants studied for T-B+ severe combined immunodeficiency

Included ClinVar conditions (13):
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
281 122 1287 2059 255 8 3853

Gene and significance breakdown #

Total genes and gene combinations: 25
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
JAK3 83 31 360 614 58 1 1091
PTPRC 14 14 312 614 45 4 994
IL7R 46 11 206 214 55 0 501
IL2RG 78 44 80 167 35 2 366
CD3E 13 6 75 129 19 0 232
CORO1A 8 3 80 121 13 0 222
CD3D 11 4 72 91 6 0 182
CD247 9 1 61 66 11 1 146
IL2RG, LOC126863274 9 6 13 17 7 0 47
CORO1A, LOC121587541 1 1 16 25 1 0 44
LAT 2 0 2 1 2 0 7
ALDOA, CORO1A, GDPD3, LOC112694756, LOC121587541, LOC125146441, LOC130058808, LOC130058809, LOC130058810, LOC130058811, LOC130058812, LOC130058813, LOC130058814, LOC130058815, LOC130058816, LOC130058817, LOC130058818, LOC130058819, MAPK3, PPP4C, TBX6, YPEL3, YPEL3-DT 2 0 2 0 0 0 4
ALDOA, ASPHD1, C16orf92, CDIPT, CORO1A, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, MAPK3, MAZ, MVP, PAGR1, PPP4C, PRRT2, SEZ6L2, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3 1 0 1 0 0 0 2
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
LRBA 1 1 0 0 0 0 2
RAG1 0 0 0 0 2 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
BOLA2, CORO1A 0 0 0 0 1 0 1
BOLA2B, CORO1A, SLX1A, SULT1A3 0 0 1 0 0 0 1
GJB1, IL2RG, ITGB1BP2, MED12, NLGN3, NONO, TAF1, ZMYM3 0 0 1 0 0 0 1
IL7R, LOC129993794 1 0 0 0 0 0 1
INSL3, JAK3, RPL18A, SLC5A5 0 0 1 0 0 0 1
LAT, LOC130058751 1 0 0 0 0 0 1
RAG2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 54
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 230 69 1063 2007 204 0 3573
Illumina Laboratory Services, Illumina 0 0 201 25 73 0 299
ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen 24 11 18 19 15 0 87
OMIM 40 0 2 0 0 0 42
Natera, Inc. 1 0 14 22 0 0 37
Fulgent Genetics, Fulgent Genetics 5 2 12 9 4 0 32
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 2 21 0 0 0 23
Baylor Genetics 2 2 16 1 0 0 21
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 6 2 7 1 0 0 16
Revvity Omics, Revvity 2 4 9 0 0 0 15
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 12 0 0 0 0 14
Genome-Nilou Lab 0 0 2 2 10 0 14
Mendelics 5 2 0 1 2 0 10
Myriad Genetics, Inc. 0 6 0 0 0 0 6
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 6 6
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 4 0 1 0 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 1 1 1 0 0 5
Laboratory of Pediatric Immunoinfectivology, Tor Vergata University 3 1 0 0 0 0 4
GreenArray Genomic Research & Solutions of Accurate Diagnostic Private Limited 0 0 2 0 2 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 1 0 0 0 0 3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 3 0 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 2 0 1 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 2 0 3
Neuberg Centre For Genomic Medicine, NCGM 1 0 2 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 1 0 2
Centogene AG - the Rare Disease Company 1 1 0 0 0 0 2
GeneReviews 0 0 0 0 0 2 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 0 2
Department of Immunology, School of Medicine, Complutense University 2 0 0 0 0 0 2
Department of Molecular and Human Genetics, Baylor College of Medicine 2 0 0 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 0 0 2
Genomics Facility, Ludwig-Maximilians-Universität München 1 1 0 0 0 0 2
Department of Laboratory Medicine, Yonsei University College of Medicine 0 2 0 0 0 0 2
Lifecell International Pvt. Ltd 1 1 0 0 0 0 2
3billion 2 0 0 0 0 0 2
Eurofins-Biomnis 0 2 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
Counsyl 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
Klein lab, Ludwig-Maximilians-University 1 0 0 0 0 0 1
Servicio inmunologia, Hospital 12 de Octubre 1 0 0 0 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 0 0 0 0 0 1
Immunology Clinic, Ucla 1 0 0 0 0 0 1
Centre for Medical Genetics, Mumbai 0 0 0 0 1 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 1 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
DASA 0 1 0 0 0 0 1
Massaad Lab, American University of Beirut 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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