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 |
total |
21
|
16
|
516
|
531
|
67
|
1034
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Invitae
|
9
|
3
|
292
|
351
|
33
|
688
|
Ambry Genetics
|
5
|
0 |
170
|
257
|
12
|
444
|
GeneDx
|
2
|
3
|
130
|
96
|
40
|
271
|
CeGaT Center for Human Genetics Tuebingen
|
1
|
0 |
18
|
29
|
7
|
55
|
PreventionGenetics, part of Exact Sciences
|
0 |
0 |
8
|
32
|
10
|
50
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
10
|
19
|
15
|
44
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
0 |
5
|
6
|
20
|
32
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
1
|
12
|
1
|
14
|
Eurofins Ntd Llc (ga)
|
0 |
0 |
5
|
2
|
6
|
13
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
9
|
4
|
0 |
13
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
0 |
0 |
0 |
9
|
4
|
13
|
OMIM
|
10
|
0 |
0 |
0 |
0 |
10
|
Revvity Omics, Revvity
|
0 |
0 |
9
|
0 |
0 |
9
|
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine
|
9
|
0 |
0 |
0 |
0 |
9
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
0 |
1
|
2
|
4
|
7
|
Baylor Genetics
|
2
|
0 |
4
|
0 |
0 |
6
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
1
|
5
|
0 |
6
|
Blueprint Genetics
|
0 |
1
|
4
|
1
|
0 |
6
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
0 |
0 |
0 |
5
|
1
|
6
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
5
|
0 |
0 |
5
|
MGZ Medical Genetics Center
|
0 |
1
|
2
|
1
|
0 |
4
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
1
|
2
|
1
|
0 |
4
|
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille
|
2
|
0 |
2
|
0 |
0 |
4
|
New York Genome Center
|
0 |
0 |
4
|
0 |
0 |
4
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
4
|
0 |
0 |
4
|
Genetic Services Laboratory, University of Chicago
|
0 |
1
|
1
|
0 |
1
|
3
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
0 |
1
|
2
|
0 |
3
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
0 |
3
|
0 |
3
|
Department of Vascular Biology, Beijing Anzhen Hospital
|
0 |
0 |
3
|
0 |
0 |
3
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
2
|
0 |
0 |
2
|
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
|
1
|
0 |
1
|
0 |
0 |
2
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
1
|
1
|
0 |
0 |
2
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
1
|
1
|
0 |
0 |
0 |
2
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
2
|
0 |
2
|
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine
|
0 |
1
|
0 |
1
|
0 |
2
|
AiLife Diagnostics, AiLife Diagnostics
|
0 |
1
|
1
|
0 |
0 |
2
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
2
|
2
|
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
|
0 |
1
|
0 |
0 |
0 |
1
|
Mendelics
|
0 |
0 |
0 |
1
|
0 |
1
|
Center of Genomic medicine, Geneva, University Hospital of Geneva
|
0 |
1
|
0 |
0 |
0 |
1
|
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes
|
0 |
0 |
1
|
0 |
0 |
1
|
Diagnostic Laboratory, Strasbourg University Hospital
|
0 |
0 |
1
|
0 |
0 |
1
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
0 |
1
|
0 |
0 |
0 |
1
|
Daryl Scott Lab, Baylor College of Medicine
|
0 |
0 |
1
|
0 |
0 |
1
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
1
|
0 |
0 |
0 |
0 |
1
|
SIB Swiss Institute of Bioinformatics
|
0 |
1
|
0 |
0 |
0 |
1
|
Breda Genetics srl
|
0 |
0 |
1
|
0 |
0 |
1
|
Insititute of Human Genetics, University Giessen, Germany
|
0 |
1
|
0 |
0 |
0 |
1
|
DECIPHERD-UDD, Universidad del Desarrollo
|
1
|
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.