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 |
236
|
309
|
315
|
472
|
93
|
13
|
1175
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
216
|
106
|
125
|
417
|
26
|
0 |
890
|
GeneDx
|
28
|
11
|
38
|
41
|
63
|
0 |
181
|
Baylor Genetics
|
66
|
69
|
2
|
0 |
0 |
0 |
136
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
41
|
25
|
22
|
3
|
4
|
0 |
95
|
Counsyl
|
4
|
52
|
35
|
3
|
0 |
0 |
94
|
JKU Lab, Dept of Paediatrics, Johannes Kepler University
|
10
|
53
|
24
|
1
|
1
|
0 |
89
|
Natera, Inc.
|
26
|
4
|
32
|
13
|
12
|
0 |
87
|
Fulgent Genetics, Fulgent Genetics
|
19
|
16
|
21
|
24
|
2
|
0 |
82
|
Illumina Laboratory Services, Illumina
|
5
|
1
|
25
|
15
|
25
|
0 |
71
|
PreventionGenetics, part of Exact Sciences
|
15
|
7
|
7
|
19
|
12
|
0 |
60
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
6
|
6
|
6
|
7
|
9
|
0 |
34
|
Genome Diagnostics Laboratory, The Hospital for Sick Children
|
6
|
5
|
10
|
5
|
3
|
0 |
29
|
Eurofins Ntd Llc (ga)
|
6
|
3
|
12
|
0 |
8
|
0 |
29
|
CeGaT Center for Human Genetics Tuebingen
|
4
|
7
|
7
|
3
|
4
|
0 |
25
|
Genome-Nilou Lab
|
0 |
2
|
3
|
1
|
19
|
0 |
25
|
OMIM
|
23
|
0 |
0 |
0 |
0 |
0 |
23
|
Ambry Genetics
|
2
|
2
|
14
|
1
|
1
|
0 |
20
|
Athena Diagnostics Inc
|
0 |
4
|
4
|
1
|
9
|
0 |
18
|
Institute of Human Genetics, University of Wuerzburg
|
1
|
5
|
10
|
0 |
0 |
0 |
16
|
Myriad Genetics, Inc.
|
4
|
11
|
1
|
0 |
0 |
0 |
16
|
Revvity Omics, Revvity
|
8
|
2
|
5
|
0 |
0 |
0 |
15
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
2
|
0 |
0 |
0 |
10
|
0 |
12
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
1
|
1
|
0 |
0 |
9
|
0 |
11
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
6
|
1
|
0 |
1
|
1
|
0 |
9
|
Institute of Human Genetics, University of Leipzig Medical Center
|
3
|
3
|
3
|
0 |
0 |
0 |
9
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
3
|
6
|
0 |
0 |
0 |
0 |
9
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
8
|
8
|
Blueprint Genetics
|
4
|
2
|
1
|
0 |
0 |
0 |
7
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
4
|
1
|
0 |
0 |
0 |
6
|
Genetic Services Laboratory, University of Chicago
|
0 |
0 |
3
|
2
|
0 |
0 |
5
|
MGZ Medical Genetics Center
|
1
|
3
|
1
|
0 |
0 |
0 |
5
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
4
|
1
|
0 |
0 |
0 |
0 |
5
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
1
|
0 |
0 |
0 |
4
|
0 |
5
|
Gharavi Laboratory, Columbia University
|
0 |
0 |
5
|
0 |
0 |
0 |
5
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
2
|
3
|
0 |
0 |
0 |
0 |
5
|
Genetics and Molecular Pathology, SA Pathology
|
3
|
1
|
0 |
0 |
0 |
0 |
4
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
1
|
0 |
0 |
2
|
0 |
3
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
1
|
0 |
0 |
1
|
1
|
0 |
3
|
Undiagnosed Diseases Network, NIH
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
1
|
1
|
1
|
0 |
0 |
3
|
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Johns Hopkins Genomics, Johns Hopkins University
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
3
|
3
|
MVZ Dr. Eberhard & Partner Dortmund
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Mendelics
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Center for Molecular Medicine, Children’s Hospital of Fudan University
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Center for Personalized Medicine, Children's Hospital Los Angeles
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Children's Hospital of Soochow University, Soochow University
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Genomic Medicine Lab, University of California San Francisco
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
NxGen MDx
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Center of Excellence in Genomics and Precision Dentistry, Faculty of Dentistry, Chulalongkorn University
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, University Hospital Muenster
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Molecular Genetics Laboratory, Biocruces Bizkaia Health Research Institute
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
DASA
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Mayo Clinic Laboratories, Mayo Clinic
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Division of Human Genetics, Children's Hospital of Philadelphia
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Center of Genomic medicine, Geneva, University Hospital of Geneva
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
SIB Swiss Institute of Bioinformatics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Pediatric Metabolic Diseases, Hacettepe University
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Reproductive Health Research and Development, BGI Genomics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genomics England Pilot Project, Genomics England
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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