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 |
164
|
222
|
466
|
611
|
64
|
2
|
1347
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Labcorp Genetics (formerly Invitae), Labcorp
|
135
|
35
|
292
|
566
|
39
|
0 |
1067
|
Natera, Inc.
|
16
|
6
|
74
|
29
|
15
|
0 |
140
|
Baylor Genetics
|
43
|
70
|
5
|
0 |
0 |
0 |
115
|
Eurofins Ntd Llc (ga)
|
9
|
0 |
70
|
10
|
10
|
0 |
99
|
Counsyl
|
1
|
61
|
17
|
1
|
0 |
0 |
80
|
PreventionGenetics, part of Exact Sciences
|
8
|
2
|
19
|
41
|
8
|
0 |
78
|
GeneDx
|
9
|
5
|
21
|
11
|
29
|
0 |
75
|
Ambry Genetics
|
3
|
0 |
54
|
7
|
0 |
0 |
64
|
Fulgent Genetics, Fulgent Genetics
|
12
|
32
|
11
|
1
|
1
|
0 |
57
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
24
|
8
|
14
|
5
|
3
|
0 |
54
|
Illumina Laboratory Services, Illumina
|
1
|
0 |
40
|
3
|
7
|
0 |
51
|
Myriad Genetics, Inc.
|
2
|
37
|
1
|
0 |
0 |
0 |
40
|
Breakthrough Genomics, Breakthrough Genomics
|
0 |
0 |
6
|
9
|
14
|
0 |
29
|
Mayo Clinic Laboratories, Mayo Clinic
|
2
|
3
|
15
|
1
|
4
|
0 |
25
|
CeGaT Center for Human Genetics Tuebingen
|
7
|
2
|
0 |
12
|
1
|
0 |
22
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
2
|
0 |
2
|
8
|
8
|
0 |
20
|
Genome-Nilou Lab
|
0 |
4
|
5
|
1
|
9
|
0 |
19
|
Revvity Omics, Revvity
|
8
|
5
|
3
|
0 |
0 |
0 |
16
|
Clinical Genetics, Academic Medical Center
|
1
|
0 |
1
|
3
|
11
|
0 |
16
|
Athena Diagnostics
|
2
|
0 |
3
|
1
|
3
|
0 |
9
|
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg
|
4
|
0 |
5
|
0 |
0 |
0 |
9
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
2
|
0 |
5
|
1
|
0 |
0 |
8
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
2
|
0 |
1
|
1
|
4
|
0 |
8
|
OMIM
|
7
|
0 |
0 |
0 |
0 |
0 |
7
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
4
|
0 |
2
|
0 |
0 |
0 |
6
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
4
|
2
|
0 |
0 |
0 |
0 |
6
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
1
|
0 |
2
|
2
|
0 |
5
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
2
|
3
|
0 |
0 |
5
|
Genetic Services Laboratory, University of Chicago
|
1
|
0 |
0 |
2
|
1
|
0 |
4
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
1
|
0 |
0 |
2
|
1
|
0 |
4
|
Blueprint Genetics
|
3
|
1
|
0 |
0 |
0 |
0 |
4
|
Johns Hopkins Genomics, Johns Hopkins University
|
3
|
1
|
0 |
0 |
0 |
0 |
4
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
0 |
0 |
1
|
2
|
0 |
3
|
Elsea Laboratory, Baylor College of Medicine
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
2
|
0 |
0 |
1
|
0 |
0 |
3
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
1
|
1
|
0 |
1
|
0 |
0 |
3
|
Wangler Lab, Baylor College of Medicine
|
0 |
3
|
0 |
0 |
0 |
0 |
3
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Center for Molecular Medicine, Children’s Hospital of Fudan University
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Ege University Pediatric Genetics, Ege University
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
SIB Swiss Institute of Bioinformatics
|
1
|
0 |
0 |
0 |
1
|
0 |
2
|
Laboratoire de Génétique Moléculaire, CHU Bordeaux
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Gharavi Laboratory, Columbia University
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Diagnostics Centre, Carl Von Ossietzky University Oldenburg
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Centogene AG - the Rare Disease Company
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Centre for Inherited Metabolic Diseases, Karolinska University Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Bionano Laboratories
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ClinVar Staff, National Center for Biotechnology Information (NCBI)
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Division of Human Genetics, Children's Hospital of Philadelphia
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Leeds Amelogenesis Imperfecta Research Group, University of Leeds
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Undiagnosed Diseases Network, NIH
|
1
|
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 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Kariminejad - Najmabadi Pathology & Genetics Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Pathology and Clinical Laboratory Medicine, King Fahad Medical City
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Section for Clinical Neurogenetics, University of Tübingen
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Inborn Errors of Metabolism, Hospital Clinic, IDIBAPS, CIBERER
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
3billion
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genomics England Pilot Project, Genomics England
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Department of Human Genetics, Hannover Medical School
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
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.