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 |
12
|
9
|
351
|
261
|
103
|
1
|
667
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
1
|
1
|
102
|
160
|
30
|
0 |
294
|
GeneDx
|
1
|
1
|
45
|
82
|
81
|
0 |
210
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
127
|
4
|
8
|
0 |
139
|
Genetic Services Laboratory, University of Chicago
|
1
|
0 |
62
|
20
|
6
|
0 |
89
|
Ambry Genetics
|
1
|
0 |
60
|
1
|
0 |
0 |
62
|
PreventionGenetics, part of Exact Sciences
|
0 |
0 |
1
|
36
|
8
|
0 |
45
|
CeGaT Center for Human Genetics Tuebingen
|
2
|
0 |
3
|
9
|
3
|
0 |
17
|
Athena Diagnostics Inc
|
0 |
0 |
9
|
1
|
5
|
0 |
15
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
11
|
0 |
0 |
0 |
11
|
Eurofins Ntd Llc (ga)
|
0 |
0 |
8
|
0 |
2
|
0 |
10
|
Revvity Omics, Revvity
|
1
|
1
|
4
|
0 |
0 |
0 |
6
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
5
|
0 |
5
|
Baylor Genetics
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille
|
0 |
0 |
1
|
3
|
0 |
0 |
4
|
OMIM
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
1
|
1
|
1
|
0 |
0 |
3
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Mendelics
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Department of Molecular Bıology and Genetics, Istanbul Technical University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
New York Genome Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
3billion
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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