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 |
33
|
24
|
368
|
311
|
111
|
10
|
746
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
26
|
8
|
144
|
204
|
15
|
0 |
397
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
152
|
55
|
42
|
0 |
213
|
Genome-Nilou Lab
|
2
|
3
|
98
|
38
|
12
|
0 |
151
|
GeneDx
|
2
|
0 |
27
|
51
|
68
|
0 |
148
|
Fulgent Genetics, Fulgent Genetics
|
1
|
0 |
72
|
5
|
2
|
0 |
80
|
Ambry Genetics
|
0 |
0 |
28
|
32
|
2
|
0 |
62
|
Eurofins Ntd Llc (ga)
|
2
|
0 |
44
|
3
|
9
|
0 |
58
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
2
|
11
|
9
|
14
|
9
|
45
|
Counsyl
|
1
|
6
|
29
|
6
|
1
|
0 |
43
|
Revvity Omics, Revvity
|
2
|
1
|
26
|
0 |
0 |
0 |
29
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
0 |
7
|
5
|
13
|
0 |
25
|
PreventionGenetics, part of Exact Sciences
|
0 |
0 |
2
|
15
|
7
|
0 |
24
|
Athena Diagnostics Inc
|
0 |
0 |
1
|
3
|
9
|
0 |
13
|
Baylor Genetics
|
3
|
7
|
1
|
0 |
0 |
0 |
11
|
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario
|
0 |
0 |
1
|
4
|
6
|
0 |
11
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
2
|
4
|
5
|
0 |
11
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
1
|
6
|
3
|
0 |
10
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
0 |
3
|
2
|
4
|
0 |
9
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
2
|
6
|
1
|
0 |
9
|
Biesecker Lab/Clinical Genomics Section, National Institutes of Health
|
0 |
0 |
5
|
1
|
2
|
0 |
8
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
1
|
4
|
3
|
0 |
8
|
OMIM
|
7
|
0 |
0 |
0 |
0 |
0 |
7
|
Clinical Genetics, Academic Medical Center
|
0 |
0 |
0 |
0 |
7
|
0 |
7
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
1
|
3
|
1
|
0 |
5
|
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
Genetic Services Laboratory, University of Chicago
|
0 |
0 |
0 |
2
|
1
|
0 |
3
|
CSER _CC_NCGL, University of Washington
|
0 |
0 |
2
|
1
|
0 |
0 |
3
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
0 |
0 |
0 |
2
|
1
|
0 |
3
|
AiLife Diagnostics, AiLife Diagnostics
|
0 |
1
|
2
|
0 |
0 |
0 |
3
|
Mendelics
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Stanford Center for Inherited Cardiovascular Disease, Stanford University
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Kariminejad - Najmabadi Pathology & Genetics Center
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Genetics and Genomics Program, Sidra Medicine
|
0 |
0 |
1
|
1
|
0 |
0 |
2
|
New York Genome Center
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Institute of Molecular and Cell Biology, University of Tartu
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Division of Human Genetics, Children's Hospital of Philadelphia
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Yale Center for Mendelian Genomics, Yale University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Myriad Genetics, Inc.
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
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.