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 |
127
|
88
|
359
|
294
|
33
|
21
|
813
|
Condition and significance breakdown #
Condition |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
|
99
|
17
|
247
|
276
|
20
|
0 |
659
|
Histiocytic medullary reticulosis
|
13
|
8
|
85
|
10
|
20
|
0 |
135
|
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
|
10
|
4
|
82
|
8
|
20
|
0 |
124
|
not provided
|
28
|
22
|
16
|
7
|
9
|
21
|
90
|
Combined immunodeficiency due to partial RAG1 deficiency
|
40
|
36
|
4
|
0 |
0 |
0 |
80
|
not specified
|
0 |
0 |
13
|
5
|
10
|
0 |
27
|
Severe combined immunodeficiency disease
|
12
|
3
|
5
|
4
|
1
|
0 |
25
|
Combined immunodeficiency due to partial RAG1 deficiency; Combined immunodeficiency with skin granulomas; Histiocytic medullary reticulosis; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
|
4
|
3
|
12
|
2
|
0 |
0 |
21
|
Combined immunodeficiency with skin granulomas
|
13
|
3
|
2
|
0 |
2
|
0 |
19
|
Recombinase activating gene 1 deficiency
|
5
|
0 |
3
|
2
|
9
|
0 |
19
|
Inborn genetic diseases
|
0 |
0 |
18
|
0 |
0 |
0 |
18
|
Severe combined immunodeficiency, B cell-negative
|
6
|
0 |
0 |
0 |
0 |
0 |
6
|
RAG1-Related Disorders
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
RAG1-related condition
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
Immunodeficiency 104
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
Inherited Immunodeficiency Diseases
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Microcephaly
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Cataract 3 multiple types
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Primary ciliary dyskinesia
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
RECOMBINATION ACTIVATING GENE 1 POLYMORPHISM
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
99
|
17
|
247
|
276
|
20
|
0 |
659
|
Illumina Laboratory Services, Illumina
|
2
|
1
|
82
|
11
|
19
|
0 |
114
|
Baylor Genetics
|
38
|
35
|
5
|
0 |
0 |
0 |
78
|
GeneDx
|
13
|
8
|
6
|
5
|
9
|
0 |
41
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
14
|
5
|
13
|
4
|
3
|
0 |
39
|
OMIM
|
24
|
0 |
0 |
0 |
1
|
0 |
25
|
UniProtKB/Swiss-Prot
|
0 |
0 |
0 |
0 |
0 |
20
|
20
|
ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen
|
5
|
0 |
3
|
2
|
9
|
0 |
19
|
Ambry Genetics
|
0 |
0 |
18
|
0 |
0 |
0 |
18
|
CeGaT Center for Human Genetics Tuebingen
|
7
|
1
|
2
|
3
|
2
|
0 |
15
|
Fulgent Genetics, Fulgent Genetics
|
3
|
2
|
8
|
1
|
0 |
0 |
14
|
Revvity Omics, Revvity Omics
|
6
|
4
|
1
|
0 |
0 |
0 |
11
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
1
|
1
|
7
|
0 |
9
|
Blueprint Genetics
|
3
|
2
|
4
|
0 |
0 |
0 |
9
|
Preventiongenetics, part of Exact Sciences
|
2
|
1
|
0 |
0 |
5
|
0 |
8
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
3
|
0 |
0 |
3
|
0 |
0 |
6
|
Laboratory of Pediatric Immunoinfectivology, Tor Vergata University
|
6
|
0 |
0 |
0 |
0 |
0 |
6
|
3billion
|
0 |
5
|
1
|
0 |
0 |
0 |
6
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
1
|
0 |
0 |
4
|
0 |
0 |
5
|
Mayo Clinic Laboratories, Mayo Clinic
|
1
|
1
|
3
|
0 |
0 |
0 |
5
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
1
|
1
|
2
|
1
|
0 |
0 |
5
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
2
|
2
|
0 |
0 |
0 |
4
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
3
|
0 |
0 |
0 |
1
|
0 |
4
|
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini
|
0 |
1
|
3
|
0 |
0 |
0 |
4
|
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital
|
3
|
1
|
0 |
0 |
0 |
0 |
4
|
Mendelics
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
1
|
1
|
0 |
0 |
1
|
0 |
3
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
New York Genome Center
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
Eurofins Ntd Llc (ga)
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
NIHR Bioresource Rare Diseases, University of Cambridge
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
GreenArray Genomic Research & Solutions of Accurate Diagnostic Private Limited
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
MGZ Medical Genetics Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Johns Hopkins Genomics, Johns Hopkins University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genomics Facility, Ludwig-Maximilians-Universität München
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
AiLife Diagnostics, AiLife Diagnostics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Pars Genome Lab
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Hacettepe Dept. of Bioinformatics Rare Diseases Research Center, Institute of Health Sciences
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska"
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Pediatric Intensive Care Unit, Hunan Children's Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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