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 |
risk factor |
not provided |
total |
253
|
267
|
285
|
313
|
59
|
1
|
6
|
952
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
risk factor |
not provided |
total |
Labcorp Genetics (formerly Invitae), Labcorp
|
225
|
67
|
117
|
279
|
12
|
0 |
0 |
700
|
Baylor Genetics
|
68
|
86
|
1
|
0 |
0 |
0 |
0 |
155
|
GeneDx
|
26
|
25
|
26
|
28
|
41
|
0 |
0 |
146
|
Natera, Inc.
|
29
|
11
|
53
|
16
|
17
|
0 |
0 |
126
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
37
|
19
|
40
|
4
|
3
|
0 |
0 |
103
|
Counsyl
|
7
|
53
|
33
|
2
|
1
|
0 |
0 |
96
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
29
|
14
|
27
|
2
|
20
|
0 |
0 |
92
|
Fulgent Genetics, Fulgent Genetics
|
17
|
55
|
6
|
2
|
0 |
0 |
0 |
80
|
Eurofins Ntd Llc (ga)
|
19
|
3
|
31
|
0 |
6
|
0 |
0 |
59
|
Illumina Laboratory Services, Illumina
|
2
|
1
|
29
|
7
|
10
|
0 |
0 |
49
|
Ambry Genetics
|
4
|
0 |
25
|
14
|
0 |
0 |
0 |
43
|
PreventionGenetics, part of Exact Sciences
|
7
|
8
|
9
|
6
|
11
|
0 |
0 |
41
|
Breakthrough Genomics, Breakthrough Genomics
|
0 |
0 |
2
|
12
|
25
|
0 |
0 |
39
|
Quest Diagnostics Nichols Institute San Juan Capistrano
|
12
|
6
|
9
|
1
|
4
|
0 |
0 |
32
|
Revvity Omics, Revvity
|
10
|
12
|
9
|
0 |
0 |
0 |
0 |
31
|
CeGaT Center for Human Genetics Tuebingen
|
9
|
2
|
4
|
9
|
0 |
0 |
0 |
24
|
OMIM
|
15
|
0 |
0 |
0 |
0 |
1
|
0 |
16
|
Myriad Genetics, Inc.
|
3
|
12
|
0 |
0 |
0 |
0 |
0 |
15
|
Genome-Nilou Lab
|
0 |
0 |
2
|
1
|
11
|
0 |
0 |
14
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
3
|
2
|
2
|
0 |
1
|
0 |
0 |
8
|
MGZ Medical Genetics Center
|
3
|
2
|
2
|
0 |
0 |
0 |
0 |
7
|
Mendelics
|
4
|
1
|
2
|
0 |
0 |
0 |
0 |
7
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
7
|
0 |
0 |
0 |
0 |
0 |
0 |
7
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
4
|
3
|
0 |
0 |
0 |
0 |
0 |
7
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
3
|
2
|
0 |
0 |
1
|
0 |
0 |
6
|
Mayo Clinic Laboratories, Mayo Clinic
|
2
|
1
|
3
|
0 |
0 |
0 |
0 |
6
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
4
|
0 |
1
|
1
|
0 |
0 |
0 |
6
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
0 |
5
|
1
|
0 |
0 |
0 |
0 |
6
|
Department of Genetics of Metabolic Diseases, Institute of Medical & Molecular Genetics, Hospital Universitario Hospital La Paz
|
5
|
1
|
0 |
0 |
0 |
0 |
0 |
6
|
Neuberg Centre For Genomic Medicine, NCGM
|
3
|
0 |
2
|
0 |
0 |
0 |
0 |
5
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
3
|
1
|
0 |
0 |
0 |
0 |
0 |
4
|
Institute of Human Genetics, University Hospital Muenster
|
3
|
1
|
0 |
0 |
0 |
0 |
0 |
4
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
1
|
0 |
3
|
0 |
0 |
0 |
0 |
4
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
1
|
2
|
0 |
0 |
0 |
0 |
0 |
3
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
3
|
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
MutSpliceDB: a database of splice sites variants effects on splicing, NIH
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
3
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
2
|
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
1
|
0 |
0 |
0 |
1
|
0 |
0 |
2
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
Undiagnosed Diseases Network, NIH
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
2
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
1
|
0 |
0 |
0 |
1
|
0 |
0 |
2
|
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
Department of Human Genetics, Hannover Medical School
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Elsea Laboratory, Baylor College of Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Courtagen Diagnostics Laboratory, Courtagen Life Sciences
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Daryl Scott Lab, Baylor College of Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Seelig Lab, University of Washington
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Reproductive Health Research and Development, BGI Genomics
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Genetics Laboratory, Skane University Hospital Lund
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
New York Genome Center
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
3billion
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
DASA
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Department of Endocrinology and Genetics, Fuzhou Children’s Hospital of Fujian Medical University
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Department of Genetics, Suzhou Beikang Medical Laboratory
|
0 |
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.