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 |
76
|
103
|
294
|
947
|
51
|
2
|
1357
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
58
|
15
|
137
|
890
|
42
|
0 |
1142
|
GeneDx
|
2
|
9
|
41
|
74
|
24
|
0 |
150
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
71
|
9
|
6
|
0 |
86
|
Ambry Genetics
|
0 |
0 |
42
|
2
|
0 |
0 |
44
|
Myriad Genetics, Inc.
|
0 |
38
|
0 |
0 |
0 |
0 |
38
|
Baylor Genetics
|
3
|
26
|
7
|
0 |
0 |
0 |
36
|
PreventionGenetics, part of Exact Sciences
|
0 |
0 |
1
|
28
|
2
|
0 |
31
|
Counsyl
|
1
|
5
|
15
|
1
|
0 |
0 |
22
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
0 |
4
|
15
|
0 |
0 |
19
|
Fulgent Genetics, Fulgent Genetics
|
0 |
1
|
10
|
2
|
1
|
0 |
14
|
Revvity Omics, Revvity
|
1
|
1
|
10
|
0 |
0 |
0 |
12
|
OMIM
|
9
|
0 |
0 |
0 |
0 |
0 |
9
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
2
|
3
|
2
|
0 |
7
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
1
|
2
|
4
|
0 |
7
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
1
|
5
|
0 |
0 |
0 |
6
|
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics
|
0 |
6
|
0 |
0 |
0 |
0 |
6
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
Gharavi Laboratory, Columbia University
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
Mendelics
|
0 |
3
|
0 |
0 |
0 |
0 |
3
|
Pathology and Clinical Laboratory Medicine, King Fahad Medical City
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
Genetic Services Laboratory, University of Chicago
|
1
|
0 |
0 |
1
|
0 |
0 |
2
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
NIHR Bioresource Rare Diseases, University of Cambridge
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Centre for Inherited Metabolic Diseases, Karolinska University Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
1
|
0 |
0 |
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 |
1
|
0 |
0 |
0 |
0 |
1
|
GenePathDx, GenePath diagnostics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Génétique des Maladies du Développement, Hospices Civils de Lyon
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
3billion
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genomics England Pilot Project, Genomics England
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
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.