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 |
|
74
|
39
|
535
|
941
|
105
|
5
|
1651
|
Gene and significance breakdown #
Total genes and gene combinations: 6
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
Labcorp Genetics (formerly Invitae), Labcorp
|
62
|
22
|
456
|
934
|
74
|
0 |
1548
|
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
61
|
7
|
38
|
0 |
106
|
|
ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen
|
7
|
5
|
9
|
8
|
8
|
0 |
37
|
|
Fulgent Genetics, Fulgent Genetics
|
2
|
9
|
3
|
1
|
1
|
0 |
16
|
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
10
|
0 |
0 |
0 |
10
|
|
Baylor Genetics
|
1
|
0 |
7
|
0 |
0 |
0 |
8
|
|
OMIM
|
5
|
0 |
2
|
0 |
0 |
0 |
7
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
6
|
0 |
6
|
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
5
|
5
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
1
|
0 |
3
|
0 |
0 |
0 |
4
|
|
GreenArray Genomic Research & Solutions of Accurate Diagnostic Private Limited
|
0 |
0 |
2
|
0 |
2
|
0 |
4
|
|
3billion
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
|
Revvity Omics, Revvity
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
|
Department of Molecular and Human Genetics, Baylor College of Medicine
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Laboratory of Pediatric Immunoinfectivology, Tor Vergata University
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Mendelics
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
|
Next Generation Genetic Polyclinic
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
|
Center for Molecular Medicine, Children’s Hospital of Fudan University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Dasa
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
|
Human Genetics Section, Sidra Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Massaad Lab, American University of Beirut
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Servicio inmunologia, Hospital 12 de Octubre
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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