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 |
|
12
|
20
|
1920
|
870
|
202
|
32
|
2826
|
Condition and significance breakdown #
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
Ambry Genetics
|
0 |
0 |
1389
|
587
|
0 |
0 |
1976
|
|
Labcorp Genetics (formerly Invitae), Labcorp
|
9
|
0 |
672
|
283
|
85
|
0 |
1049
|
|
GeneDx
|
2
|
2
|
363
|
58
|
102
|
0 |
527
|
|
PreventionGenetics, part of Exact Sciences
|
1
|
1
|
38
|
51
|
25
|
0 |
116
|
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
41
|
9
|
65
|
0 |
115
|
|
Genetic Services Laboratory, University of Chicago
|
0 |
2
|
61
|
18
|
16
|
0 |
97
|
|
Mayo Clinic Laboratories, Mayo Clinic
|
3
|
6
|
31
|
26
|
27
|
0 |
93
|
|
Breakthrough Genomics, Breakthrough Genomics
|
0 |
0 |
3
|
22
|
64
|
0 |
89
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
62
|
0 |
62
|
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
0 |
0 |
58
|
0 |
0 |
0 |
58
|
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
6
|
14
|
28
|
0 |
48
|
|
Dr. Peter K. Rogan Lab, Western University
|
0 |
0 |
0 |
0 |
0 |
30
|
30
|
|
CeGaT Center for Human Genetics Tuebingen
|
2
|
2
|
3
|
13
|
7
|
0 |
27
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
3
|
0 |
16
|
4
|
0 |
0 |
23
|
|
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology
|
4
|
10
|
1
|
0 |
0 |
0 |
15
|
|
Laboratory of Genetics, Children's Clinical University Hospital Latvia
|
0 |
0 |
1
|
6
|
7
|
0 |
14
|
|
NIHR Bioresource Rare Diseases, University of Cambridge
|
3
|
9
|
1
|
0 |
0 |
0 |
13
|
|
Fulgent Genetics, Fulgent Genetics
|
1
|
1
|
7
|
2
|
0 |
0 |
11
|
|
Revvity Omics, Revvity
|
0 |
0 |
9
|
0 |
0 |
0 |
9
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
4
|
4
|
0 |
0 |
8
|
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
2
|
0 |
5
|
0 |
0 |
0 |
7
|
|
Baylor Genetics
|
0 |
0 |
5
|
0 |
0 |
0 |
5
|
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
2
|
1
|
1
|
1
|
0 |
5
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
0 |
2
|
1
|
1
|
1
|
0 |
5
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
3
|
0 |
2
|
0 |
0 |
0 |
5
|
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
3
|
1
|
0 |
4
|
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
0 |
3
|
1
|
0 |
4
|
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
3
|
0 |
0 |
3
|
|
OMIM
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
1
|
1
|
0 |
0 |
2
|
|
Johns Hopkins Genomics, Johns Hopkins University
|
0 |
1
|
0 |
1
|
0 |
0 |
2
|
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
|
Mendelics
|
0 |
0 |
1
|
0 |
1
|
0 |
2
|
|
Molecular Pathology, Peter Maccallum Cancer Centre
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Birmingham Platelet Group; University of Birmingham
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Center of Genomic medicine, Geneva, University Hospital of Geneva
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Clinical Genetics Laboratory, Skane University Hospital Lund
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Dr.Nikuei Genetic Center
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
|
Dubai Health Genomic Medicine Center, Dubai Health
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
Godley laboratory, The University of Chicago
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Ledgerwood and Morison Labs, University of Otago
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Next Generation Diagnostics, Novartis Institutes for BioMedical Research, Inc.
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Randwick Genomics Laboratory, Prince of Wales Hospital Sydney, Australia, New South Wales Health Pathology
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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health behavior solely on the basis of information contained on
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