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 |
|
19
|
20
|
4008
|
2576
|
277
|
85
|
6431
|
Condition and significance breakdown #
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
Labcorp Genetics (formerly Invitae), Labcorp
|
2
|
0 |
2909
|
1683
|
87
|
0 |
4681
|
|
Ambry Genetics
|
1
|
0 |
2323
|
1568
|
93
|
0 |
3985
|
|
GeneDx
|
0 |
0 |
355
|
96
|
117
|
0 |
568
|
|
Baylor Genetics
|
0 |
0 |
353
|
0 |
0 |
0 |
353
|
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
73
|
37
|
49
|
0 |
159
|
|
Sema4, Sema4
|
0 |
0 |
56
|
58
|
41
|
0 |
155
|
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
0 |
9
|
105
|
22
|
0 |
136
|
|
PreventionGenetics, part of Exact Sciences
|
0 |
1
|
34
|
51
|
20
|
0 |
106
|
|
Breakthrough Genomics, Breakthrough Genomics
|
0 |
0 |
9
|
27
|
56
|
0 |
92
|
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
79
|
6
|
0 |
0 |
85
|
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
|
0 |
0 |
0 |
9
|
53
|
0 |
62
|
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
1
|
0 |
52
|
1
|
0 |
0 |
54
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
0 |
6
|
9
|
33
|
0 |
48
|
|
Dr. Peter K. Rogan Lab, Western University
|
0 |
0 |
0 |
0 |
0 |
47
|
47
|
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
7
|
9
|
23
|
0 |
39
|
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
6
|
11
|
15
|
0 |
32
|
|
ITMI
|
0 |
0 |
0 |
0 |
0 |
29
|
29
|
|
Genetic Services Laboratory, University of Chicago
|
0 |
0 |
8
|
6
|
4
|
0 |
18
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
9
|
4
|
4
|
0 |
17
|
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
4
|
12
|
0 |
16
|
|
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital
|
11
|
2
|
3
|
0 |
0 |
0 |
16
|
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
|
12
|
1
|
2
|
0 |
0 |
0 |
15
|
|
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University
|
0 |
5
|
0 |
0 |
10
|
0 |
15
|
|
Revvity Omics, Revvity
|
0 |
0 |
15
|
0 |
0 |
0 |
15
|
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
2
|
9
|
0 |
11
|
|
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
|
0 |
0 |
10
|
0 |
1
|
0 |
11
|
|
Faculté Pluridciplinaire Nador, Université Mohamed Premier
|
0 |
3
|
5
|
2
|
0 |
0 |
10
|
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
0 |
0 |
0 |
2
|
7
|
0 |
9
|
|
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
|
1
|
2
|
5
|
0 |
0 |
0 |
8
|
|
Eurofins Ntd Llc (ga)
|
0 |
0 |
3
|
0 |
4
|
0 |
7
|
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
0 |
0 |
0 |
7
|
0 |
7
|
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
6
|
6
|
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
0 |
0 |
0 |
0 |
4
|
0 |
4
|
|
Mendelics
|
0 |
0 |
2
|
2
|
0 |
0 |
4
|
|
Molekularpathologisches Zentrum, Universitaetsklinikum Heidelberg
|
0 |
4
|
0 |
0 |
0 |
0 |
4
|
|
OMIM
|
4
|
0 |
0 |
0 |
0 |
0 |
4
|
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
0 |
3
|
0 |
3
|
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
3
|
3
|
|
Dasa
|
0 |
0 |
1
|
1
|
0 |
0 |
2
|
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
|
Laboratorio de I+D, Fundación Centro Médico de Asturias
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
|
Laboratory of Genetics, Children's Clinical University Hospital Latvia
|
0 |
0 |
0 |
2
|
0 |
0 |
2
|
|
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Quest Diagnostics Nichols Institute San Juan Capistrano
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Yale Center for Mendelian Genomics, Yale University
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Clinical Genetics Laboratory, Skane University Hospital Lund
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Department of Pathology and Genetics, University of Gothenburg
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Department of Pediatrics, Memorial Sloan Kettering Cancer Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Genome Sciences Centre, British Columbia Cancer Agency
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
|
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
ISCA site 8
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS)
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
|
Liquid Biopsy and Cancer Interception Group, Pfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
M.M. Shemyakin and Yu.A. Ovchinnikov Institute of Bioorganic Chemistry, Russian Academy of Science
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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