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 |
other |
not provided |
total |
16
|
18
|
2248
|
1379
|
144
|
3
|
1
|
38
|
3537
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
risk factor |
other |
not provided |
total |
Invitae
|
3
|
1
|
1667
|
1030
|
57
|
0 |
0 |
0 |
2758
|
Ambry Genetics
|
4
|
2
|
1030
|
689
|
25
|
0 |
0 |
0 |
1750
|
GeneDx
|
1
|
0 |
254
|
83
|
37
|
0 |
0 |
0 |
375
|
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
|
1
|
0 |
54
|
70
|
19
|
0 |
0 |
0 |
144
|
Baylor Genetics
|
0 |
0 |
134
|
0 |
0 |
0 |
0 |
0 |
134
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
60
|
15
|
57
|
0 |
0 |
0 |
132
|
Sema4, Sema4
|
0 |
0 |
44
|
39
|
10
|
0 |
0 |
0 |
93
|
Mendelics
|
1
|
0 |
49
|
27
|
8
|
0 |
0 |
0 |
85
|
PreventionGenetics, part of Exact Sciences
|
1
|
0 |
23
|
44
|
16
|
0 |
0 |
0 |
84
|
Eurofins Ntd Llc (ga)
|
1
|
0 |
17
|
1
|
15
|
0 |
0 |
0 |
34
|
ITMI
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
30
|
30
|
Biesecker Lab/Clinical Genomics Section, National Institutes of Health
|
0 |
0 |
19
|
0 |
5
|
0 |
0 |
0 |
24
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
0 |
6
|
1
|
17
|
0 |
0 |
0 |
24
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
23
|
1
|
0 |
0 |
0 |
0 |
24
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
0 |
6
|
11
|
4
|
0 |
0 |
0 |
21
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
0 |
0 |
19
|
0 |
1
|
0 |
0 |
0 |
20
|
Clinical Genetics, Academic Medical Center
|
0 |
0 |
0 |
5
|
14
|
0 |
0 |
0 |
19
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
|
0 |
0 |
0 |
5
|
14
|
0 |
0 |
0 |
19
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
6
|
1
|
10
|
0 |
0 |
0 |
17
|
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
|
0 |
0 |
17
|
0 |
0 |
0 |
0 |
0 |
17
|
Database of Curated Mutations (DoCM)
|
0 |
15
|
0 |
0 |
0 |
0 |
0 |
0 |
15
|
OMIM
|
12
|
0 |
0 |
0 |
0 |
2
|
0 |
0 |
14
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
0 |
0 |
0 |
1
|
12
|
0 |
0 |
0 |
13
|
Genetic Services Laboratory, University of Chicago
|
0 |
0 |
2
|
5
|
2
|
0 |
0 |
0 |
9
|
Revvity Omics, Revvity
|
1
|
0 |
8
|
0 |
0 |
0 |
0 |
0 |
9
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
1
|
0 |
0 |
1
|
7
|
0 |
0 |
0 |
9
|
Quest Diagnostics Nichols Institute San Juan Capistrano
|
0 |
0 |
6
|
0 |
3
|
0 |
0 |
0 |
9
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
1
|
0 |
0 |
4
|
3
|
0 |
0 |
0 |
8
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
1
|
6
|
1
|
0 |
0 |
0 |
8
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
1
|
2
|
4
|
0 |
0 |
0 |
7
|
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University
|
0 |
2
|
0 |
0 |
5
|
0 |
0 |
0 |
7
|
Athena Diagnostics Inc
|
0 |
0 |
1
|
0 |
5
|
0 |
0 |
0 |
6
|
Vantari Genetics
|
0 |
0 |
3
|
1
|
1
|
0 |
0 |
0 |
5
|
MutSpliceDB: a database of splice sites variants effects on splicing, NIH
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
5
|
5
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
5
|
0 |
0 |
0 |
5
|
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille
|
0 |
0 |
1
|
3
|
0 |
0 |
0 |
0 |
4
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
3
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, University of Goettingen
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, Cologne University
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
MGZ Medical Genetics Center
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
CSER _CC_NCGL, University of Washington
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
School of Biological Sciences, University of the Punjab
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Donald Williams Parsons Laboratory, Baylor College of Medicine
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
The Spine Surgery of The First Affiliated Hospital, Sun Yat-sen University
|
0 |
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Myriad Genetics, Inc.
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Faculté Pluridciplinaire Nador, Université Mohamed Premier
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genomic Center, National Cancer Institute
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Department of Medical Oncology, City of Hope
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Oncology - Human Genetics Lab, University of Sao Paulo
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Pathology Department, Puerta del Mar University Hospital
|
0 |
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.