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 |
107
|
36
|
316
|
262
|
111
|
2
|
692
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
61
|
5
|
178
|
143
|
31
|
0 |
418
|
GeneDx
|
17
|
5
|
41
|
61
|
61
|
0 |
185
|
Ambry Genetics
|
8
|
2
|
56
|
35
|
9
|
0 |
110
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
56
|
26
|
50
|
0 |
97
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
11
|
13
|
26
|
20
|
4
|
1
|
75
|
CeGaT Center for Human Genetics Tuebingen
|
2
|
1
|
5
|
20
|
0 |
0 |
28
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
21
|
3
|
1
|
0 |
25
|
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario
|
1
|
1
|
12
|
5
|
4
|
0 |
23
|
Clinical Genetics, Academic Medical Center
|
0 |
0 |
2
|
4
|
14
|
0 |
20
|
PreventionGenetics, part of Exact Sciences
|
0 |
0 |
0 |
15
|
4
|
0 |
19
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
1
|
10
|
2
|
5
|
0 |
19
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
1
|
0 |
0 |
10
|
5
|
0 |
16
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
1
|
9
|
5
|
0 |
15
|
OMIM
|
13
|
0 |
0 |
0 |
0 |
0 |
13
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
1
|
0 |
1
|
9
|
1
|
0 |
12
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
1
|
0 |
0 |
9
|
1
|
0 |
11
|
Blueprint Genetics
|
1
|
3
|
5
|
0 |
0 |
0 |
9
|
Eurofins Ntd Llc (ga)
|
2
|
0 |
3
|
1
|
2
|
0 |
8
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
3
|
2
|
3
|
0 |
8
|
Stanford Center for Inherited Cardiovascular Disease, Stanford University
|
1
|
1
|
3
|
0 |
1
|
0 |
6
|
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute
|
0 |
0 |
0 |
6
|
0 |
0 |
6
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
0 |
0 |
5
|
0 |
5
|
Baylor Genetics
|
2
|
0 |
2
|
0 |
0 |
0 |
4
|
Revvity Omics, Revvity
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
4
|
0 |
0 |
0 |
0 |
0 |
4
|
Cohesion Phenomics
|
0 |
0 |
0 |
2
|
2
|
0 |
4
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
1
|
1
|
0 |
0 |
3
|
Mendelics
|
1
|
0 |
0 |
1
|
0 |
0 |
2
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
KTest Genetics, KTest
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Medical Genetics and Mitochondrial Research group, Latvian Biomedical Research and Study center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Diagnostic Laboratory, Strasbourg University Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Human Genetics Laboratory, State University of Rio de Janeiro
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Cytoplasmic Inheritance Laboratory, Institute of Genetics and Cytology
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Genetics and Genomics Program, Sidra Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
3billion
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Kids Neuroscience Centre, Sydney Children's Hospitals Network
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Loeys Lab, Universiteit Antwerpen
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
The Laboratory of Cardiovascular Diseases, The First Hospital of LanZhou University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
School of Medicine, Universitat de Girona
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
The information on this website is not intended for direct
diagnostic use or medical decision-making without review by a
genetics professional. Individuals should not change their
health behavior solely on the basis of information contained on
this website. Neither the University of Utah nor the National
Institutes of Health independently verfies the submitted
information. If you have questions about the information
contained on this website, please see a health care
professional.