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 |
20
|
16
|
42
|
72
|
12
|
1
|
146
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
3
|
1
|
16
|
68
|
10
|
0 |
98
|
GeneDx
|
4
|
0 |
8
|
0 |
0 |
0 |
12
|
Institute of Human Genetics, University of Leipzig Medical Center
|
8
|
1
|
1
|
0 |
0 |
0 |
10
|
Ambry Genetics
|
0 |
1
|
5
|
2
|
0 |
0 |
8
|
University of Washington Center for Mendelian Genomics, University of Washington
|
0 |
7
|
1
|
0 |
0 |
0 |
8
|
CeGaT Center for Human Genetics Tuebingen
|
1
|
1
|
3
|
1
|
1
|
0 |
7
|
Mendelics
|
0 |
0 |
3
|
1
|
0 |
0 |
4
|
OMIM
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
1
|
2
|
0 |
0 |
0 |
3
|
Quest Diagnostics Nichols Institute San Juan Capistrano
|
0 |
0 |
1
|
0 |
1
|
0 |
2
|
International Society for Gastrointestinal Hereditary Tumours (InSiGHT)
|
1
|
0 |
0 |
0 |
1
|
0 |
2
|
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Baylor Genetics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Genetic Services Laboratory, University of Chicago
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Sema4, Sema4
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ITMI
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Undiagnosed Diseases Network, NIH
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Génétique des Maladies du Développement, Hospices Civils de Lyon
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Johns Hopkins Genomics, Johns Hopkins University
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
New York Genome Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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