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 |
93
|
136
|
173
|
249
|
66
|
42
|
641
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
73
|
22
|
2
|
233
|
23
|
0 |
353
|
Counsyl
|
4
|
56
|
32
|
2
|
0 |
0 |
94
|
Illumina Laboratory Services, Illumina
|
4
|
1
|
56
|
6
|
18
|
0 |
85
|
Natera, Inc.
|
13
|
4
|
25
|
17
|
11
|
0 |
70
|
GeneDx
|
7
|
2
|
12
|
0 |
41
|
0 |
62
|
NIHR Bioresource Rare Diseases, University of Cambridge
|
12
|
20
|
14
|
0 |
0 |
0 |
46
|
UniProtKB/Swiss-Prot
|
0 |
0 |
0 |
0 |
0 |
41
|
41
|
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology
|
6
|
12
|
15
|
0 |
0 |
0 |
32
|
Fulgent Genetics, Fulgent Genetics
|
11
|
5
|
3
|
1
|
0 |
0 |
20
|
Revvity Omics, Revvity Omics
|
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
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
2
|
5
|
8
|
0 |
0 |
0 |
15
|
Preventiongenetics, part of Exact Sciences
|
4
|
2
|
1
|
1
|
5
|
0 |
13
|
Ambry Genetics
|
1
|
0 |
10
|
1
|
0 |
0 |
12
|
Mayo Clinic Laboratories, Mayo Clinic
|
4
|
5
|
2
|
0 |
0 |
0 |
11
|
Eurofins Ntd Llc (ga)
|
6
|
1
|
2
|
1
|
0 |
0 |
10
|
Genome-Nilou Lab
|
0 |
1
|
0 |
3
|
5
|
0 |
9
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
1
|
1
|
4
|
0 |
0 |
0 |
6
|
Mendelics
|
4
|
0 |
1
|
0 |
0 |
0 |
5
|
CeGaT Center for Human Genetics Tuebingen
|
2
|
1
|
2
|
0 |
0 |
0 |
5
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
1
|
3
|
1
|
0 |
0 |
0 |
5
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
4
|
0 |
0 |
0 |
0 |
4
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
1
|
0 |
0 |
0 |
1
|
0 |
2
|
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
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
1
|
0 |
1
|
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
|
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
|
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
|
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
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
DASA
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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