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 |
105
|
143
|
211
|
262
|
66
|
42
|
692
|
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
|
77
|
22
|
2
|
240
|
23
|
0 |
364
|
Counsyl
|
4
|
56
|
32
|
2
|
0 |
0 |
94
|
Illumina Laboratory Services, Illumina
|
5
|
1
|
51
|
6
|
18
|
0 |
81
|
GeneDx
|
8
|
6
|
18
|
0 |
41
|
0 |
73
|
Natera, Inc.
|
13
|
4
|
25
|
17
|
11
|
0 |
70
|
NIHR Bioresource Rare Diseases, University of Cambridge
|
12
|
20
|
14
|
0 |
0 |
0 |
46
|
UniProtKB/Swiss-Prot
|
0 |
0 |
0 |
0 |
0 |
41
|
41
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
8
|
11
|
20
|
0 |
0 |
0 |
39
|
Ambry Genetics
|
1
|
0 |
29
|
4
|
0 |
0 |
34
|
PreventionGenetics, part of Exact Sciences
|
8
|
3
|
3
|
12
|
6
|
0 |
32
|
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology
|
6
|
12
|
15
|
0 |
0 |
0 |
32
|
Breakthrough Genomics, Breakthrough Genomics
|
0 |
0 |
2
|
9
|
20
|
0 |
31
|
Mayo Clinic Laboratories, Mayo Clinic
|
8
|
9
|
6
|
0 |
0 |
0 |
23
|
Fulgent Genetics, Fulgent Genetics
|
11
|
5
|
3
|
1
|
0 |
0 |
20
|
Revvity Omics, Revvity
|
9
|
9
|
1
|
0 |
0 |
0 |
19
|
OMIM
|
16
|
0 |
0 |
0 |
0 |
0 |
16
|
Myriad Genetics, Inc.
|
0 |
14
|
2
|
0 |
0 |
0 |
16
|
Eurofins Ntd Llc (ga)
|
6
|
1
|
2
|
1
|
0 |
0 |
10
|
CeGaT Center for Human Genetics Tuebingen
|
2
|
1
|
3
|
2
|
1
|
0 |
9
|
Genome-Nilou Lab
|
0 |
1
|
0 |
3
|
5
|
0 |
9
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
3
|
0 |
5
|
0 |
0 |
0 |
8
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
3
|
2
|
2
|
0 |
0 |
0 |
7
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
6
|
0 |
0 |
0 |
0 |
0 |
6
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
3
|
2
|
1
|
0 |
0 |
0 |
6
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
1
|
1
|
4
|
0 |
0 |
0 |
6
|
Neuberg Centre For Genomic Medicine, NCGM
|
1
|
3
|
2
|
0 |
0 |
0 |
6
|
Mendelics
|
4
|
0 |
1
|
0 |
0 |
0 |
5
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
2
|
1
|
0 |
0 |
1
|
0 |
4
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
4
|
0 |
0 |
0 |
0 |
4
|
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Reproductive Health Research and Development, BGI Genomics
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Baylor Genetics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Bionano Laboratories
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Birmingham Platelet Group; University of Birmingham
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Johns Hopkins Genomics, Johns Hopkins University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
New York Genome Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
3billion
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
DASA
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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health behavior solely on the basis of information contained on
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Institutes of Health independently verfies the submitted
information. If you have questions about the information
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