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 |
risk factor |
not provided |
total |
167
|
84
|
745
|
537
|
47
|
2
|
9
|
1489
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
risk factor |
not provided |
total |
Invitae
|
47
|
5
|
633
|
507
|
24
|
0 |
0 |
1216
|
Molecular Pathology Research Laboratory, SA Pathology
|
118
|
43
|
13
|
0 |
0 |
0 |
0 |
174
|
GeneDx
|
6
|
3
|
50
|
14
|
13
|
0 |
0 |
86
|
PreventionGenetics, part of Exact Sciences
|
13
|
14
|
24
|
23
|
10
|
0 |
0 |
84
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
48
|
4
|
23
|
0 |
0 |
75
|
Genetic Services Laboratory, University of Chicago
|
4
|
8
|
35
|
14
|
6
|
0 |
0 |
67
|
Baylor Genetics
|
1
|
0 |
44
|
0 |
0 |
0 |
0 |
45
|
Sema4, Sema4
|
0 |
0 |
18
|
17
|
2
|
0 |
0 |
37
|
CeGaT Center for Human Genetics Tuebingen
|
1
|
0 |
4
|
8
|
4
|
0 |
0 |
17
|
OMIM
|
14
|
0 |
0 |
0 |
0 |
2
|
0 |
15
|
Mayo Clinic Laboratories, Mayo Clinic
|
4
|
4
|
3
|
0 |
0 |
0 |
0 |
11
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
1
|
2
|
6
|
0 |
0 |
9
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
8
|
1
|
0 |
0 |
0 |
9
|
Clinical Genetics, Academic Medical Center
|
0 |
0 |
0 |
0 |
6
|
0 |
0 |
6
|
Mendelics
|
1
|
3
|
1
|
1
|
0 |
0 |
0 |
6
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
0 |
0 |
1
|
0 |
5
|
0 |
0 |
6
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
1
|
0 |
5
|
0 |
0 |
0 |
0 |
6
|
Johns Hopkins Genomics, Johns Hopkins University
|
0 |
2
|
3
|
1
|
0 |
0 |
0 |
6
|
Ambry Genetics
|
0 |
0 |
4
|
1
|
0 |
0 |
0 |
5
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
0 |
5
|
0 |
0 |
5
|
ITMI
|
0 |
0 |
0 |
0 |
0 |
0 |
5
|
5
|
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
|
0 |
0 |
5
|
0 |
0 |
0 |
0 |
5
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
1
|
0 |
4
|
0 |
0 |
5
|
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan
|
0 |
0 |
0 |
0 |
5
|
0 |
0 |
5
|
Revvity Omics, Revvity
|
2
|
0 |
2
|
0 |
0 |
0 |
0 |
4
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
0 |
0 |
0 |
3
|
0 |
0 |
3
|
Eurofins Ntd Llc (ga)
|
0 |
0 |
0 |
0 |
3
|
0 |
0 |
3
|
Blueprint Genetics
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
1
|
2
|
0 |
0 |
0 |
0 |
3
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
3
|
0 |
0 |
3
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
3
|
UCLA Clinical Genomics Center, UCLA
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
Database of Curated Mutations (DoCM)
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
2
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
0 |
1
|
1
|
0 |
0 |
2
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
0 |
0 |
0 |
0 |
2
|
0 |
0 |
2
|
Department of Laboratory Medicine, Yonsei University College of Medicine
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Undiagnosed Diseases Network, NIH
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Department of Immunology, University Hospital Southampton NHSFT
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Godley laboratory, The University of Chicago
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
AiLife Diagnostics, AiLife Diagnostics
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Malcovati Lab, University of Pavia
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Pediatric Hematology-Oncology Program, Instituto Nacional de Cancer
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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