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 |
3
|
7
|
2218
|
1310
|
610
|
5
|
3717
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
0 |
0 |
1600
|
1085
|
244
|
0 |
2929
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
148
|
65
|
290
|
0 |
503
|
Revvity Omics, Revvity
|
0 |
0 |
322
|
17
|
0 |
0 |
339
|
GeneDx
|
0 |
0 |
4
|
26
|
256
|
0 |
286
|
Ambry Genetics
|
0 |
0 |
264
|
16
|
0 |
0 |
280
|
Eurofins Ntd Llc (ga)
|
0 |
0 |
153
|
29
|
36
|
0 |
218
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
1
|
48
|
86
|
40
|
0 |
175
|
Athena Diagnostics Inc
|
0 |
0 |
71
|
23
|
61
|
0 |
155
|
PreventionGenetics, part of Exact Sciences
|
0 |
0 |
18
|
60
|
33
|
0 |
111
|
Genetic Services Laboratory, University of Chicago
|
0 |
0 |
3
|
45
|
29
|
0 |
77
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
12
|
23
|
0 |
35
|
Clinical Genetics, Academic Medical Center
|
0 |
0 |
0 |
3
|
27
|
0 |
30
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
24
|
0 |
24
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
5
|
10
|
1
|
0 |
16
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
0 |
11
|
1
|
0 |
0 |
12
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
3
|
9
|
0 |
12
|
Baylor Genetics
|
0 |
0 |
11
|
0 |
0 |
0 |
11
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
7
|
4
|
0 |
11
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
0 |
9
|
0 |
0 |
9
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
7
|
0 |
0 |
0 |
7
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
5
|
1
|
1
|
0 |
7
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
4
|
1
|
2
|
0 |
7
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
0 |
0 |
0 |
5
|
1
|
0 |
6
|
Blueprint Genetics
|
0 |
0 |
3
|
2
|
0 |
0 |
5
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
0 |
2
|
2
|
0 |
0 |
4
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
|
0 |
0 |
2
|
0 |
1
|
0 |
3
|
Mendelics
|
0 |
0 |
1
|
0 |
2
|
0 |
3
|
ISCA site 1
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
3
|
3
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
1
|
1
|
0 |
0 |
2
|
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Human Genetics Bochum, Ruhr University Bochum
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
OMIM
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Goettingen
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
MGZ Medical Genetics Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
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
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Neurogenetics Research Program, University of Adelaide
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
SIB Swiss Institute of Bioinformatics
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Center for Personalized Medicine, Children's Hospital Los Angeles
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Seelig Lab, University of Washington
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Breda Genetics srl
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
AiLife Diagnostics, AiLife Diagnostics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Lifecell International Pvt. Ltd
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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health behavior solely on the basis of information contained on
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