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 |
13
|
19
|
126
|
174
|
108
|
2
|
376
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine
|
3
|
9
|
69
|
111
|
86
|
1
|
279
|
GeneDx
|
4
|
4
|
14
|
57
|
49
|
0 |
128
|
Invitae
|
1
|
0 |
0 |
24
|
50
|
0 |
75
|
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
|
0 |
0 |
27
|
7
|
3
|
0 |
37
|
Athena Diagnostics Inc
|
0 |
2
|
3
|
5
|
24
|
0 |
34
|
Otology & Neurotology- Genomics of vestibular disorders (CTS-495),Jose Antonio López Escámez, Centro Pfizer - Universidad de Granada - Junta de Andalucía de Genómica e Investigación Oncológica (GENYO)
|
0 |
1
|
7
|
2
|
0 |
0 |
10
|
Division of Human Genetics,Children's Hospital of Philadelphia
|
0 |
1
|
7
|
0 |
0 |
0 |
8
|
CeGaT Praxis fuer Humangenetik Tuebingen
|
0 |
3
|
4
|
0 |
0 |
0 |
7
|
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics
|
0 |
0 |
4
|
1
|
1
|
0 |
6
|
Fulgent Genetics,Fulgent Genetics
|
0 |
1
|
3
|
0 |
0 |
0 |
4
|
OMIM
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
New York Genome Center
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Hadassah Hebrew University Medical Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Center for Statistical Genetics, Columbia University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
The Genetic Institute, Ha'emek Medical center,Ha'emek Medical Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratory of Molecular Genetics,Brain Korea 21 PLUS Project for Medical Sciences, Yonsei University College of Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genomic Medicine Lab, University of California San Francisco
|
0 |
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.