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 |
131
|
93
|
754
|
842
|
414
|
9
|
1771
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
90
|
32
|
283
|
672
|
259
|
0 |
1336
|
Eurofins Ntd Llc (ga)
|
41
|
12
|
283
|
15
|
90
|
0 |
441
|
GeneDx
|
13
|
10
|
87
|
148
|
134
|
0 |
392
|
Illumina Laboratory Services, Illumina
|
2
|
0 |
64
|
26
|
109
|
0 |
201
|
Revvity Omics, Revvity
|
16
|
14
|
167
|
3
|
0 |
0 |
200
|
PreventionGenetics, part of Exact Sciences
|
1
|
5
|
3
|
76
|
50
|
0 |
135
|
CeGaT Center for Human Genetics Tuebingen
|
7
|
3
|
23
|
41
|
3
|
0 |
77
|
Ambry Genetics
|
2
|
1
|
61
|
3
|
0 |
0 |
67
|
Genetic Services Laboratory, University of Chicago
|
1
|
1
|
8
|
16
|
11
|
0 |
37
|
Clinical Genetics, Academic Medical Center
|
3
|
1
|
0 |
0 |
31
|
0 |
35
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
4
|
0 |
2
|
4
|
22
|
0 |
32
|
Athena Diagnostics Inc
|
1
|
0 |
6
|
3
|
10
|
0 |
20
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
0 |
18
|
1
|
0 |
19
|
OMIM
|
14
|
0 |
0 |
0 |
0 |
0 |
14
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
13
|
0 |
0 |
0 |
13
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
13
|
0 |
13
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
1
|
0 |
0 |
4
|
7
|
0 |
12
|
Fulgent Genetics, Fulgent Genetics
|
1
|
1
|
5
|
5
|
0 |
0 |
12
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
0 |
7
|
2
|
1
|
0 |
10
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
10
|
0 |
10
|
Baylor Genetics
|
2
|
0 |
7
|
0 |
0 |
0 |
9
|
3billion
|
2
|
3
|
1
|
0 |
0 |
0 |
6
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
1
|
3
|
0 |
0 |
0 |
5
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
1
|
0 |
1
|
2
|
1
|
0 |
5
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
1
|
3
|
0 |
0 |
0 |
5
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
2
|
2
|
1
|
0 |
0 |
0 |
5
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
1
|
2
|
2
|
0 |
0 |
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
|
Mendelics
|
2
|
1
|
1
|
0 |
0 |
0 |
4
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
2
|
0 |
2
|
0 |
0 |
0 |
4
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
3
|
3
|
Institute of Human Genetics, University of Wuerzburg
|
0 |
2
|
1
|
0 |
0 |
0 |
3
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
3
|
3
|
Kariminejad - Najmabadi Pathology & Genetics Center
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
3
|
0 |
0 |
3
|
AiLife Diagnostics, AiLife Diagnostics
|
0 |
1
|
2
|
0 |
0 |
0 |
3
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
3
|
3
|
MGZ Medical Genetics Center
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Center for Genetic Medicine Research, Children's National Medical Center
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
NeuroMeGen, Hospital Clinico Santiago de Compostela
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Undiagnosed Diseases Network, NIH
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
0 |
2
|
0 |
0 |
2
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Goettingen
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Centre de Genetique Humaine, Institut de Pathologie et de Genetique
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, Cologne University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genomic Medicine Lab, University of California San Francisco
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Pars Genome Lab
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Suma Genomics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
DASA
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genomics England Pilot Project, Genomics England
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Provincial Medical Genetics Program of British Columbia, University of British Columbia
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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