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 |
322
|
166
|
353
|
76
|
46
|
7
|
853
|
Gene and significance breakdown #
Total genes and gene combinations: 2
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
PMS2
|
321
|
165
|
353
|
76
|
46
|
7
|
851
|
RB1
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Myriad Genetics, Inc.
|
289
|
99
|
71
|
17
|
24
|
0 |
500
|
Baylor Genetics
|
64
|
51
|
202
|
0 |
0 |
0 |
317
|
Counsyl
|
10
|
10
|
85
|
19
|
13
|
0 |
137
|
Illumina Laboratory Services, Illumina
|
1
|
3
|
40
|
17
|
16
|
0 |
77
|
Fulgent Genetics, Fulgent Genetics
|
11
|
6
|
51
|
4
|
1
|
0 |
73
|
Mendelics
|
2
|
3
|
28
|
17
|
5
|
0 |
55
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
|
1
|
0 |
1
|
13
|
19
|
0 |
34
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
1
|
0 |
0 |
2
|
15
|
0 |
18
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
5
|
0 |
11
|
0 |
0 |
0 |
16
|
MGZ Medical Genetics Center
|
5
|
4
|
6
|
0 |
0 |
0 |
15
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
0 |
0 |
0 |
4
|
11
|
0 |
15
|
Institute of Human Genetics, University of Leipzig Medical Center
|
4
|
2
|
8
|
0 |
0 |
0 |
14
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
1
|
0 |
0 |
3
|
10
|
0 |
14
|
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
|
9
|
3
|
1
|
0 |
0 |
0 |
13
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
8
|
3
|
0 |
11
|
OMIM
|
7
|
0 |
0 |
0 |
0 |
0 |
7
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
3
|
3
|
1
|
0 |
0 |
0 |
7
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
6
|
0 |
0 |
0 |
0 |
0 |
6
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
6
|
6
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
1
|
5
|
0 |
0 |
0 |
6
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
2
|
0 |
3
|
0 |
0 |
0 |
5
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
1
|
1
|
1
|
1
|
0 |
4
|
University of Washington Department of Laboratory Medicine, University of Washington
|
1
|
2
|
0 |
1
|
0 |
0 |
4
|
deCODE genetics, Amgen
|
1
|
3
|
0 |
0 |
0 |
0 |
4
|
Division of Medical Genetics, University of Washington
|
1
|
0 |
3
|
0 |
0 |
0 |
4
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
Human Genetics Bochum, Ruhr University Bochum
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
IntelligeneCG
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Biesecker Lab/Clinical Genomics Section, National Institutes of Health
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genetic Services Laboratory, University of Chicago
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Centre de Genetique Humaine, Institut de Pathologie et de Genetique
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Preventiongenetics, part of Exact Sciences
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Daryl Scott Lab, Baylor College of Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genomics England Pilot Project, Genomics England
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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health behavior solely on the basis of information contained on
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