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 |
281
|
105
|
560
|
2051
|
306
|
1
|
3135
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
261
|
77
|
261
|
1859
|
132
|
0 |
2590
|
GeneDx
|
9
|
2
|
43
|
153
|
179
|
0 |
386
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
148
|
21
|
50
|
0 |
219
|
Natera, Inc.
|
11
|
5
|
55
|
57
|
58
|
0 |
186
|
Ambry Genetics
|
0 |
0 |
95
|
13
|
0 |
0 |
108
|
Athena Diagnostics Inc
|
2
|
0 |
26
|
11
|
17
|
0 |
56
|
CeGaT Center for Human Genetics Tuebingen
|
1
|
0 |
17
|
28
|
9
|
0 |
55
|
PreventionGenetics, part of Exact Sciences
|
1
|
1
|
0 |
33
|
7
|
0 |
42
|
Genome-Nilou Lab
|
0 |
0 |
3
|
2
|
33
|
0 |
38
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
0 |
0 |
0 |
20
|
14
|
0 |
34
|
Fulgent Genetics, Fulgent Genetics
|
4
|
5
|
7
|
7
|
2
|
0 |
25
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
1
|
18
|
6
|
0 |
25
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
1
|
18
|
4
|
0 |
23
|
Revvity Omics, Revvity
|
3
|
8
|
6
|
0 |
0 |
0 |
17
|
OMIM
|
9
|
0 |
0 |
0 |
0 |
0 |
9
|
Baylor Genetics
|
1
|
1
|
5
|
0 |
0 |
0 |
7
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
2
|
4
|
1
|
0 |
0 |
0 |
7
|
Counsyl
|
0 |
0 |
3
|
2
|
0 |
0 |
5
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
0 |
3
|
0 |
1
|
0 |
5
|
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center
|
0 |
0 |
0 |
0 |
4
|
0 |
4
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
1
|
3
|
0 |
0 |
0 |
4
|
Department of Genetics and Molecular Medicine, Faculty of Medicine, Zanjan University of Medical Sciences
|
4
|
0 |
0 |
0 |
0 |
0 |
4
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
1
|
2
|
0 |
0 |
0 |
3
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
1
|
2
|
0 |
0 |
3
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
1
|
0 |
1
|
0 |
2
|
Centogene AG - the Rare Disease Company
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Quest Diagnostics Nichols Institute San Juan Capistrano
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Institute of Human Genetics, University Hospital of Duesseldorf
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Department of Cell and Molecular Biology, Manipal School of Life Sciences, Manipal Academy of Higher Education
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
MGZ Medical Genetics Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Bionano Laboratories
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
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 |
1
|
Next Generation Diagnostics, Novartis Institutes for BioMedical Research, Inc.
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Myllykangas group, University of Helsinki
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Kariminejad - Najmabadi Pathology & Genetics Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Functional Genomic Platform, Centre National pour la Recherche Scientifique et Technique
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
MK Azim Lab, Mohammad Ali Jinnah University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
AiLife Diagnostics, AiLife Diagnostics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
3billion
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genomics England Pilot Project, Genomics England
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect - Brain Gene Registry
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
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health behavior solely on the basis of information contained on
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