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 |
total |
58
|
46
|
603
|
433
|
129
|
1180
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Invitae
|
43
|
23
|
478
|
401
|
59
|
1004
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
91
|
14
|
33
|
138
|
GeneDx
|
2
|
3
|
13
|
3
|
75
|
96
|
Ambry Genetics
|
0 |
0 |
54
|
4
|
0 |
58
|
Eurofins Ntd Llc (ga)
|
2
|
0 |
24
|
0 |
5
|
31
|
PreventionGenetics, part of Exact Sciences
|
2
|
1
|
3
|
22
|
1
|
29
|
CeGaT Center for Human Genetics Tuebingen
|
2
|
0 |
4
|
4
|
5
|
15
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
1
|
0 |
3
|
8
|
2
|
14
|
Clinical Genetics, Academic Medical Center
|
0 |
0 |
2
|
3
|
7
|
12
|
OMIM
|
10
|
0 |
0 |
0 |
0 |
10
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
8
|
8
|
Blueprint Genetics
|
2
|
2
|
3
|
0 |
0 |
7
|
NIHR Bioresource Rare Diseases, University of Cambridge
|
0 |
7
|
0 |
0 |
0 |
7
|
Fulgent Genetics, Fulgent Genetics
|
0 |
1
|
2
|
1
|
1
|
5
|
Revvity Omics, Revvity
|
1
|
3
|
0 |
0 |
0 |
4
|
Sharon lab, Hadassah-Hebrew University Medical Center
|
3
|
1
|
0 |
0 |
0 |
4
|
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
|
0 |
0 |
2
|
0 |
0 |
2
|
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals
|
1
|
1
|
0 |
0 |
0 |
2
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
1
|
1
|
0 |
0 |
2
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
0 |
2
|
0 |
0 |
0 |
2
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
1
|
0 |
1
|
0 |
0 |
2
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
0 |
2
|
0 |
0 |
2
|
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center
|
0 |
0 |
0 |
0 |
1
|
1
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
0 |
1
|
0 |
0 |
1
|
Mendelics
|
0 |
0 |
0 |
1
|
0 |
1
|
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre
|
0 |
1
|
0 |
0 |
0 |
1
|
McDonnell Genome Institute, Washington University in St. Louis
|
0 |
0 |
1
|
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
0 |
0 |
0 |
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
1
|
0 |
0 |
0 |
1
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
1
|
0 |
0 |
0 |
0 |
1
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
1
|
0 |
0 |
0 |
1
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
0 |
1
|
0 |
0 |
0 |
1
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
1
|
1
|
0 |
0 |
1
|
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein
|
1
|
0 |
0 |
0 |
0 |
1
|
Genomics England Pilot Project, Genomics England
|
0 |
1
|
0 |
0 |
0 |
1
|
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