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 |
risk factor |
not provided |
total |
142
|
53
|
375
|
1112
|
179
|
4
|
1
|
1696
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
risk factor |
not provided |
total |
Invitae
|
119
|
29
|
2
|
1052
|
123
|
0 |
0 |
1325
|
Illumina Laboratory Services, Illumina
|
1
|
0 |
205
|
25
|
20
|
0 |
0 |
251
|
Ambry Genetics
|
0 |
0 |
113
|
10
|
0 |
0 |
0 |
123
|
GeneDx
|
5
|
8
|
35
|
2
|
62
|
0 |
0 |
112
|
PreventionGenetics, part of Exact Sciences
|
0 |
2
|
10
|
33
|
20
|
0 |
0 |
65
|
CeGaT Center for Human Genetics Tuebingen
|
1
|
2
|
19
|
28
|
4
|
0 |
0 |
54
|
Revvity Omics, Revvity
|
2
|
1
|
23
|
0 |
0 |
0 |
0 |
26
|
Clinical Genetics, Academic Medical Center
|
1
|
0 |
2
|
8
|
9
|
0 |
0 |
20
|
OMIM
|
14
|
0 |
1
|
0 |
0 |
4
|
0 |
19
|
Fulgent Genetics, Fulgent Genetics
|
2
|
1
|
15
|
1
|
0 |
0 |
0 |
19
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
15
|
0 |
0 |
15
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
1
|
2
|
8
|
2
|
0 |
0 |
13
|
Polak associated Lab, IMAGINE Institute
|
6
|
4
|
0 |
1
|
1
|
0 |
0 |
12
|
Baylor Genetics
|
3
|
0 |
8
|
0 |
0 |
0 |
0 |
11
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
2
|
3
|
5
|
0 |
0 |
0 |
11
|
Genetic Services Laboratory, University of Chicago
|
1
|
0 |
5
|
3
|
1
|
0 |
0 |
10
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
1
|
0 |
8
|
0 |
0 |
9
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
2
|
1
|
0 |
0 |
0 |
0 |
4
|
Mendelics
|
0 |
0 |
2
|
0 |
1
|
0 |
0 |
3
|
Eurofins Ntd Llc (ga)
|
2
|
0 |
1
|
0 |
0 |
0 |
0 |
3
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
2
|
0 |
1
|
0 |
0 |
0 |
0 |
3
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
2
|
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
0 |
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
Science for Life laboratory, Karolinska Institutet
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Division of Human Genetics, Children's Hospital of Philadelphia
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Pediatric Genetics Division, Center for Pediatrics and Adolescent Medicine, University Medical Center Freiburg
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Wuerzburg
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Daryl Scott Lab, Baylor College of Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Yale Center for Mendelian Genomics, Yale University
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Center for Precision Medicine, Vanderbilt University Medical Center
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Weiss Lab, University of Miami
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University Hospital Muenster
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Molecular Oncology Research Center, Barretos Cancer Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
3billion
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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