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 |
29
|
33
|
291
|
196
|
30
|
3
|
525
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
21
|
12
|
147
|
138
|
5
|
0 |
323
|
Color Diagnostics, LLC DBA Color Health
|
0 |
2
|
60
|
65
|
2
|
0 |
129
|
GeneDx
|
9
|
5
|
48
|
41
|
22
|
0 |
125
|
Ambry Genetics
|
7
|
10
|
58
|
32
|
1
|
0 |
108
|
Illumina Laboratory Services, Illumina
|
1
|
0 |
21
|
6
|
3
|
0 |
24
|
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario
|
1
|
2
|
11
|
3
|
2
|
0 |
19
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
2
|
1
|
5
|
5
|
4
|
0 |
17
|
PreventionGenetics, part of Exact Sciences
|
2
|
0 |
2
|
9
|
2
|
0 |
15
|
Blueprint Genetics
|
3
|
4
|
7
|
0 |
0 |
0 |
14
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
1
|
7
|
5
|
0 |
0 |
13
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
1
|
1
|
5
|
2
|
1
|
0 |
10
|
Fulgent Genetics, Fulgent Genetics
|
2
|
0 |
7
|
1
|
0 |
0 |
10
|
OMIM
|
9
|
0 |
0 |
0 |
0 |
0 |
9
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
3
|
1
|
3
|
0 |
0 |
0 |
7
|
Center for Human Genetics, Inc, Center for Human Genetics, Inc
|
1
|
0 |
1
|
4
|
0 |
0 |
6
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
3
|
0 |
0 |
0 |
3
|
0 |
6
|
AiLife Diagnostics, AiLife Diagnostics
|
0 |
0 |
6
|
0 |
0 |
0 |
6
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
1
|
1
|
0 |
0 |
3
|
0 |
5
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
3
|
0 |
1
|
0 |
0 |
0 |
4
|
Baylor Genetics
|
1
|
1
|
1
|
0 |
0 |
0 |
3
|
Eurofins Ntd Llc (ga)
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
Department of Vascular Biology, Beijing Anzhen Hospital
|
0 |
1
|
2
|
0 |
0 |
0 |
3
|
Clinical Genetics Unit, University of Padua
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, Cologne University
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Stanford Center for Inherited Cardiovascular Disease, Stanford University
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
1
|
0 |
0 |
0 |
1
|
0 |
2
|
Gharavi Laboratory, Columbia University
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Revvity Omics, Revvity
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
MGZ Medical Genetics Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Mendelics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Genetics and Genomics, Karolinska University Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Centre of Medical Genetics, University of Antwerp
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University Hospital of Duesseldorf
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Medical Genetics, University of Zurich
|
1
|
0 |
0 |
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
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Institute of Human Genetics, University Hospital Muenster
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genomics England Pilot Project, Genomics England
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Tissue and Cell Biology Laboratory, Universidade Estadual do Norte Fluminense Darcy Ribeiro
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Cohesion Phenomics
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
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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.