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 |
likely risk allele |
uncertain risk allele |
not provided |
total |
190
|
173
|
1141
|
678
|
323
|
27
|
63
|
5
|
1991
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
likely risk allele |
uncertain risk allele |
not provided |
total |
Labcorp Genetics (formerly Invitae), Labcorp
|
126
|
24
|
665
|
506
|
84
|
0 |
0 |
0 |
1405
|
GeneDx
|
24
|
34
|
343
|
152
|
126
|
0 |
0 |
0 |
679
|
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic
|
14
|
17
|
48
|
56
|
234
|
27
|
63
|
0 |
459
|
Fulgent Genetics, Fulgent Genetics
|
19
|
39
|
321
|
69
|
3
|
0 |
0 |
0 |
451
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
12
|
3
|
83
|
62
|
66
|
0 |
0 |
0 |
226
|
Illumina Laboratory Services, Illumina
|
5
|
0 |
117
|
52
|
58
|
0 |
0 |
0 |
204
|
PreventionGenetics, part of Exact Sciences
|
7
|
12
|
62
|
64
|
32
|
0 |
0 |
0 |
177
|
CeGaT Center for Human Genetics Tuebingen
|
11
|
11
|
57
|
60
|
6
|
0 |
0 |
0 |
145
|
Ambry Genetics
|
4
|
3
|
104
|
12
|
0 |
0 |
0 |
0 |
123
|
Eurofins Ntd Llc (ga)
|
2
|
3
|
47
|
10
|
33
|
0 |
0 |
0 |
95
|
Breakthrough Genomics, Breakthrough Genomics
|
0 |
0 |
7
|
28
|
59
|
0 |
0 |
0 |
94
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
1
|
2
|
20
|
19
|
34
|
0 |
0 |
0 |
76
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
1
|
4
|
8
|
37
|
16
|
0 |
0 |
0 |
66
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
1
|
2
|
9
|
48
|
2
|
0 |
0 |
0 |
62
|
Genetic Services Laboratory, University of Chicago
|
3
|
6
|
10
|
22
|
13
|
0 |
0 |
0 |
54
|
Personalized Diabetes Medicine Program, University of Maryland School of Medicine
|
0 |
0 |
30
|
7
|
14
|
0 |
0 |
0 |
51
|
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg
|
7
|
10
|
27
|
0 |
0 |
0 |
0 |
0 |
44
|
Clinical Genetics, Academic Medical Center
|
1
|
2
|
7
|
13
|
14
|
0 |
0 |
0 |
37
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
10
|
1
|
18
|
5
|
0 |
0 |
0 |
0 |
34
|
OMIM
|
32
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
32
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
3
|
4
|
3
|
4
|
16
|
0 |
0 |
0 |
30
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
2
|
4
|
14
|
0 |
2
|
0 |
0 |
0 |
22
|
New York Genome Center
|
1
|
2
|
19
|
0 |
0 |
0 |
0 |
0 |
20
|
Revvity Omics, Revvity
|
2
|
2
|
14
|
1
|
0 |
0 |
0 |
0 |
19
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
8
|
2
|
7
|
1
|
0 |
0 |
0 |
0 |
18
|
Athena Diagnostics
|
2
|
0 |
3
|
5
|
7
|
0 |
0 |
0 |
17
|
Mayo Clinic Laboratories, Mayo Clinic
|
1
|
3
|
12
|
0 |
0 |
0 |
0 |
0 |
16
|
Laboratory of Prof. Karen Avraham, Tel Aviv University
|
9
|
5
|
2
|
0 |
0 |
0 |
0 |
0 |
16
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
4
|
2
|
9
|
0 |
0 |
0 |
15
|
Mendelics
|
2
|
1
|
2
|
1
|
6
|
0 |
0 |
0 |
12
|
Baylor Genetics
|
2
|
2
|
6
|
0 |
0 |
0 |
0 |
0 |
10
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
1
|
3
|
6
|
0 |
0 |
0 |
0 |
0 |
10
|
MGZ Medical Genetics Center
|
2
|
4
|
3
|
0 |
0 |
0 |
0 |
0 |
9
|
Constantin Polychronakos Laboratory, The Research Institute of the McGill University Health Centre
|
7
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
9
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
1
|
2
|
5
|
0 |
0 |
0 |
0 |
0 |
8
|
Gharavi Laboratory, Columbia University
|
0 |
2
|
6
|
0 |
0 |
0 |
0 |
0 |
8
|
Molecular Endocrinology Laboratory, Christian Medical College
|
5
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
8
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
3
|
0 |
4
|
0 |
0 |
0 |
0 |
0 |
7
|
Institute of Human Genetics, University of Leipzig Medical Center
|
3
|
2
|
2
|
0 |
0 |
0 |
0 |
0 |
7
|
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris
|
0 |
5
|
2
|
0 |
0 |
0 |
0 |
0 |
7
|
3billion
|
2
|
3
|
2
|
0 |
0 |
0 |
0 |
0 |
7
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
4
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
7
|
Department Of Endocrinology, Sanjay Gandhi Postgraduate Institute Of Medical Sciences
|
5
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
7
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
|
1
|
0 |
2
|
1
|
2
|
0 |
0 |
0 |
6
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
0 |
5
|
0 |
0 |
0 |
0 |
0 |
6
|
Neuberg Centre For Genomic Medicine, NCGM
|
1
|
0 |
5
|
0 |
0 |
0 |
0 |
0 |
6
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
1
|
0 |
3
|
1
|
0 |
0 |
0 |
5
|
Center for Statistical Genetics, Columbia University
|
1
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
5
|
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center
|
0 |
4
|
1
|
0 |
0 |
0 |
0 |
0 |
5
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
4
|
WangQJ Lab, Chinese People's Liberation Army General Hospital
|
1
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Center for Computational Biology & Bioinformatics, University of California, San Diego
|
0 |
0 |
4
|
0 |
0 |
0 |
0 |
0 |
4
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
3
|
Center of Genomic medicine, Geneva, University Hospital of Geneva
|
1
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
3
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
0 |
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
1
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
2
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
3
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
1
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Genomics England Pilot Project, Genomics England
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Department of Ophthalmology and Visual Sciences Kyoto University
|
0 |
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Undiagnosed Diseases Network, NIH
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
0 |
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Breda Genetics srl
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
INGEBI, INGEBI / CONICET
|
0 |
1
|
0 |
0 |
1
|
0 |
0 |
0 |
2
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
Clinical Genetics Laboratory, Skane University Hospital Lund
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
DASA
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
2
|
Shanghai Diabetes Institute, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Diagnostics Laboratory, Seoul National University Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Division of Human Genetics, Children's Hospital of Philadelphia
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
National Institute on Deafness and Communication Disorders, National Institutes of Health
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
SIB Swiss Institute of Bioinformatics
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Yale Center for Mendelian Genomics, Yale University
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Center for Personalized Medicine, Children's Hospital Los Angeles
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP)
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Reproductive Health Research and Development, BGI Genomics
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University Hospital Muenster
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
AiLife Diagnostics, AiLife Diagnostics
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Pars Genome Lab
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Biomedical Genomics and Oncogenetics Laboratory, Institut Pasteur de Tunis, University Tunis El Manar
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
H3Africa Consortium
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Palindrome, Gene Kavoshgaran Aria
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Discovery DNA Inc
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Payam Genetics Center, General Welfare Department of North Khorasan Province
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Pediatrics, Sichuan Provincial Hospital For Women And Children
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Research and Development Department, MaiDa Gene Technology
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Rare Diseases, West China Hospital, Sichuan University
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
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health behavior solely on the basis of information contained on
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