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 |
|
50
|
43
|
352
|
323
|
221
|
3
|
883
|
Condition and significance breakdown #
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
Invitae
|
33
|
7
|
139
|
170
|
97
|
0 |
446
|
|
GeneDx
|
5
|
16
|
123
|
126
|
158
|
0 |
428
|
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
7
|
9
|
46
|
38
|
60
|
0 |
160
|
|
Ambry Genetics
|
0 |
1
|
102
|
12
|
0 |
0 |
115
|
|
PreventionGenetics, part of Exact Sciences
|
1
|
4
|
1
|
44
|
5
|
0 |
55
|
|
CeGaT Center for Human Genetics Tuebingen
|
3
|
3
|
8
|
13
|
3
|
0 |
30
|
|
Eurofins Ntd Llc (ga)
|
2
|
2
|
15
|
1
|
1
|
0 |
21
|
|
Athena Diagnostics Inc
|
0 |
0 |
3
|
0 |
8
|
0 |
11
|
|
Revvity Omics, Revvity
|
2
|
5
|
4
|
0 |
0 |
0 |
11
|
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
2
|
0 |
0 |
0 |
9
|
0 |
11
|
|
Fulgent Genetics, Fulgent Genetics
|
2
|
3
|
5
|
0 |
0 |
0 |
10
|
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
9
|
0 |
9
|
|
Baylor Genetics
|
0 |
0 |
7
|
0 |
0 |
0 |
7
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
5
|
0 |
5
|
|
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center
|
0 |
0 |
5
|
0 |
0 |
0 |
5
|
|
OMIM
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
1
|
1
|
1
|
0 |
3
|
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
3
|
3
|
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
|
3billion
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
|
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
|
King Laboratory, University of Washington
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
|
0 |
0 |
0 |
2
|
0 |
0 |
2
|
|
MGZ Medical Genetics Center
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Bionano Laboratories
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Illumina Laboratory Services, Illumina
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
|
Service de Biologie Medicale, CIUSSS du Saguenay-Lac-Saint-Jean
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
|
WangQJ Lab, Chinese People's Liberation Army General Hospital
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Quest Diagnostics Nichols Institute San Juan Capistrano
|
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
|
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Clinical Genetics, Erasmus University Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Tehran Medical Genetics Laboratory
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Johns Hopkins Genomics, Johns Hopkins University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
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.