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 |
85
|
49
|
700
|
426
|
48
|
1
|
1237
|
Gene and significance breakdown #
Total genes and gene combinations: 4
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
78
|
20
|
617
|
395
|
44
|
0 |
1154
|
Illumina Laboratory Services, Illumina
|
0 |
1
|
92
|
31
|
11
|
0 |
135
|
Fulgent Genetics, Fulgent Genetics
|
3
|
8
|
73
|
14
|
3
|
0 |
101
|
OMIM
|
9
|
0 |
0 |
0 |
0 |
0 |
9
|
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
|
2
|
7
|
0 |
0 |
0 |
0 |
9
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
3
|
4
|
0 |
0 |
0 |
7
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
1
|
0 |
2
|
1
|
0 |
0 |
4
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
3
|
1
|
0 |
0 |
0 |
4
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
1
|
1
|
1
|
0 |
0 |
0 |
3
|
Baylor Genetics
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
New York Genome Center
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
KardioGenetik, Herz- und Diabeteszentrum NRW
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
MGZ Medical Genetics Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Mendelics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Division of Human Genetics, Children's Hospital of Philadelphia
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Donald Williams Parsons Laboratory, Baylor College of Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Phosphorus, Inc.
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Breda Genetics srl
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Division of Medical Genetics, University of Washington
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Clinical Genomics Program, Stanford Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
3billion
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genomics England Pilot Project, Genomics England
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Human Genetics Bochum, Ruhr University Bochum
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
MVZ Medizinische Genetik Mainz
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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