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 |
122
|
97
|
456
|
511
|
106
|
1
|
1135
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
91
|
23
|
275
|
420
|
47
|
0 |
856
|
GeneDx
|
15
|
8
|
42
|
95
|
68
|
0 |
228
|
Eurofins Ntd Llc (ga)
|
16
|
2
|
115
|
6
|
21
|
0 |
160
|
Illumina Laboratory Services, Illumina
|
2
|
0 |
68
|
17
|
13
|
0 |
100
|
Revvity Omics, Revvity
|
9
|
7
|
70
|
0 |
0 |
0 |
86
|
Baylor Genetics
|
23
|
51
|
7
|
1
|
0 |
0 |
82
|
PreventionGenetics, part of Exact Sciences
|
1
|
4
|
4
|
41
|
26
|
0 |
76
|
Athena Diagnostics Inc
|
1
|
3
|
26
|
7
|
21
|
0 |
58
|
Genetic Services Laboratory, University of Chicago
|
1
|
0 |
15
|
10
|
10
|
0 |
36
|
Ambry Genetics
|
3
|
1
|
29
|
3
|
0 |
0 |
36
|
CeGaT Center for Human Genetics Tuebingen
|
4
|
4
|
7
|
16
|
3
|
0 |
34
|
Fulgent Genetics, Fulgent Genetics
|
4
|
2
|
15
|
1
|
0 |
0 |
22
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
3
|
6
|
8
|
0 |
2
|
0 |
19
|
OMIM
|
16
|
0 |
0 |
0 |
0 |
0 |
16
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
1
|
1
|
1
|
1
|
10
|
0 |
14
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
1
|
4
|
9
|
0 |
14
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
14
|
0 |
14
|
Clinical Genetics, Academic Medical Center
|
0 |
0 |
0 |
1
|
10
|
0 |
11
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
10
|
0 |
0 |
0 |
10
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
0 |
0 |
1
|
0 |
5
|
0 |
6
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
2
|
0 |
3
|
0 |
1
|
0 |
6
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
0 |
5
|
1
|
0 |
6
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
1
|
1
|
1
|
2
|
0 |
0 |
5
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
5
|
0 |
5
|
MGZ Medical Genetics Center
|
2
|
1
|
1
|
0 |
0 |
0 |
4
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
3
|
0 |
0 |
3
|
Mendelics
|
1
|
1
|
0 |
0 |
1
|
0 |
3
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
2
|
1
|
0 |
0 |
0 |
3
|
Pathology and Clinical Laboratory Medicine, King Fahad Medical City
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Kariminejad - Najmabadi Pathology & Genetics Center
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Gharavi Laboratory, Columbia University
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Center for Reproductive Medicine, Peking University Third Hospital
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Genetics Institute, Tel Aviv Sourasky Medical Center
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Ege University Pediatric Genetics, Ege University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Cell Biology and Neurobiology, Charite - Universitaetsmedizin Berlin
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
MutSpliceDB: a database of splice sites variants effects on splicing, NIH
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
3billion
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
0 |
1
|
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
contained on this website, please see a health care
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