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
316 161 1313 2248 257 8 4123

Gene and significance breakdown #

Total genes and gene combinations: 26
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
JAK3 97 51 362 669 59 1 1177
PTPRC 16 15 319 664 45 4 1054
IL7R 51 21 209 232 55 0 530
IL2RG 85 45 95 173 35 2 392
CD3E 15 8 77 145 19 0 253
CORO1A 9 3 78 149 13 0 249
CD3D 11 7 72 98 7 0 191
CD247 9 1 58 74 11 1 151
IL2RG, LOC126863274 11 7 14 17 7 0 49
CORO1A, LOC121587541 1 2 17 26 1 0 47
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
CXorf65, IL2RG 2 0 0 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, CD3D, CD3E, CD3G, CENATAC, CEP164, CXCR5, DDX6, DPAGT1, DRC12, 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: 59
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 257 72 1081 2195 206 0 3811
Illumina Laboratory Services, Illumina 0 0 198 25 73 0 296
ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen 37 16 25 20 15 0 113
Fulgent Genetics, Fulgent Genetics 12 36 13 9 4 0 74
OMIM 40 0 2 0 0 0 42
Natera, Inc. 1 0 14 22 0 0 37
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 2 21 0 0 0 23
Baylor Genetics 3 2 16 1 0 0 22
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 6 3 9 1 0 0 19
Revvity Omics, Revvity 2 4 9 0 0 0 15
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 10 0 0 0 0 15
Genome-Nilou Lab 0 0 2 2 10 0 14
Department of Pathology and Laboratory Medicine, Sinai Health System 1 1 8 0 1 0 11
Mendelics 5 2 0 1 2 0 10
Neuberg Centre For Genomic Medicine, NCGM 2 1 5 0 0 0 8
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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 2 0 0 0 0 4
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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 1 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
3billion 2 0 0 1 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
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
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 2 0 0 0 0 2
Lifecell International Pvt. Ltd 1 1 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
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 1 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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