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 |
64
|
32
|
384
|
229
|
67
|
1
|
709
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
36
|
5
|
220
|
202
|
45
|
0 |
508
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
90
|
4
|
27
|
0 |
121
|
Eurofins Ntd Llc (ga)
|
10
|
1
|
62
|
4
|
9
|
0 |
86
|
Ambry Genetics
|
2
|
1
|
59
|
3
|
0 |
0 |
65
|
PreventionGenetics, part of Exact Sciences
|
1
|
0 |
3
|
32
|
10
|
0 |
46
|
GeneDx
|
5
|
2
|
6
|
0 |
24
|
0 |
37
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
4
|
4
|
13
|
0 |
0 |
0 |
21
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
0 |
7
|
10
|
0 |
0 |
17
|
Baylor Genetics
|
1
|
0 |
6
|
0 |
0 |
0 |
7
|
OMIM
|
6
|
0 |
0 |
0 |
0 |
0 |
6
|
Fulgent Genetics, Fulgent Genetics
|
1
|
0 |
3
|
2
|
0 |
0 |
6
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
0 |
2
|
1
|
3
|
0 |
6
|
Hacettepe Genetic Diseases Diagnosis Center, Hacettepe University Faculty of Medicine
|
1
|
5
|
0 |
0 |
0 |
0 |
6
|
Revvity Omics, Revvity
|
0 |
0 |
5
|
0 |
0 |
0 |
5
|
Blueprint Genetics
|
4
|
1
|
0 |
0 |
0 |
0 |
5
|
3billion
|
2
|
2
|
1
|
0 |
0 |
0 |
5
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
2
|
2
|
0 |
0 |
0 |
4
|
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre
|
1
|
4
|
0 |
0 |
0 |
0 |
4
|
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics
|
1
|
2
|
1
|
0 |
0 |
0 |
4
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
2
|
2
|
0 |
0 |
0 |
4
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
1
|
0 |
0 |
0 |
2
|
0 |
3
|
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
Genetic Services Laboratory, University of Chicago
|
0 |
0 |
1
|
0 |
1
|
0 |
2
|
Mendelics
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Medical Genetics, University of Parma
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Cytogenetics and Molecular Genetics Section, Pathology Unit, BARC Hospital, Bhabha Atomic Research Centre
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
SIB Swiss Institute of Bioinformatics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Breda Genetics srl
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Prenatal Diagnosis Center, Guizhou Provincial People's Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Istanbul Faculty of Medicine, Istanbul University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Medical Genetics, Medical University of Vienna
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Suma Genomics
|
1
|
0 |
0 |
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.