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 |
279
|
117
|
1282
|
2059
|
254
|
8
|
3845
|
Gene and significance breakdown #
Total genes and gene combinations: 25
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
JAK3
|
83
|
30
|
359
|
614
|
57
|
1
|
1089
|
PTPRC
|
14
|
14
|
312
|
614
|
45
|
4
|
994
|
IL7R
|
45
|
8
|
202
|
214
|
55
|
0 |
497
|
IL2RG
|
77
|
43
|
80
|
167
|
35
|
2
|
365
|
CD3E
|
13
|
6
|
74
|
129
|
19
|
0 |
231
|
CORO1A
|
8
|
3
|
80
|
121
|
13
|
0 |
222
|
CD3D
|
11
|
4
|
73
|
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 #
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
|
13
|
7
|
13
|
18
|
9
|
0 |
60
|
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
|
17
|
0 |
0 |
0 |
21
|
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
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
5
|
0 |
3
|
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
|
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 Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
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
|
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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