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 |
25
|
21
|
476
|
412
|
53
|
1
|
921
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
10
|
4
|
316
|
364
|
30
|
0 |
724
|
GeneDx
|
2
|
2
|
68
|
15
|
21
|
0 |
108
|
Ambry Genetics
|
0 |
1
|
39
|
53
|
5
|
0 |
98
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
3
|
24
|
22
|
5
|
0 |
54
|
Eurofins Ntd Llc (ga)
|
0 |
0 |
13
|
5
|
6
|
0 |
24
|
PreventionGenetics, part of Exact Sciences
|
0 |
0 |
6
|
12
|
3
|
0 |
21
|
OMIM
|
14
|
0 |
0 |
0 |
0 |
0 |
14
|
Revvity Omics, Revvity
|
0 |
0 |
12
|
0 |
0 |
0 |
12
|
Athena Diagnostics Inc
|
0 |
0 |
2
|
0 |
7
|
0 |
9
|
Department of Neurology, Hunan Children's Hospital
|
3
|
1
|
4
|
0 |
0 |
0 |
8
|
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center
|
0 |
0 |
0 |
0 |
7
|
0 |
7
|
Quest Diagnostics Nichols Institute San Juan Capistrano
|
0 |
0 |
6
|
0 |
0 |
0 |
6
|
Diagnostic Laboratory, Strasbourg University Hospital
|
0 |
0 |
5
|
0 |
0 |
0 |
5
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
1
|
3
|
0 |
0 |
0 |
5
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
1
|
3
|
1
|
0 |
5
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
1
|
4
|
0 |
0 |
5
|
Baylor Genetics
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
3
|
1
|
0 |
4
|
ISCA site 1
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
3
|
1
|
0 |
0 |
4
|
New York Genome Center
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Mendelics
|
0 |
0 |
1
|
2
|
0 |
0 |
3
|
Genetic Services Laboratory, University of Chicago
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
1
|
1
|
0 |
0 |
2
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
0 |
0 |
2
|
0 |
0 |
2
|
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille
|
0 |
0 |
0 |
2
|
0 |
0 |
2
|
Neurogenetics Laboratory - MEYER, AOU Meyer
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Department of Laboratory Medicine, Yonsei University College of Medicine
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, University of Goettingen
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
MGZ Medical Genetics Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Bionano Laboratories
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Richard Lifton Laboratory, Yale University School of Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ISCA Site 6
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
NeuroMeGen, Hospital Clinico Santiago de Compostela
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Epilepsy and Neurogenetic Laboratory, Kaohsiung Chang Gung Memorial Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
AiLife Diagnostics, AiLife Diagnostics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
GenomeConnect - Brain Gene Registry
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Provincial Medical Genetics Program of British Columbia, University of British Columbia
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Cytogenetics, Genetics Associates, Inc.
|
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.