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 |
drug response |
not provided |
total |
100
|
38
|
1298
|
788
|
130
|
1
|
4
|
2161
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
drug response |
not provided |
total |
Invitae
|
86
|
14
|
1062
|
624
|
81
|
0 |
0 |
1867
|
Fulgent Genetics, Fulgent Genetics
|
2
|
4
|
236
|
49
|
1
|
0 |
0 |
292
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
163
|
16
|
55
|
0 |
0 |
234
|
GeneDx
|
0 |
4
|
58
|
35
|
60
|
0 |
0 |
157
|
Genetic Services Laboratory, University of Chicago
|
0 |
1
|
85
|
37
|
23
|
0 |
0 |
146
|
Sema4, Sema4
|
0 |
2
|
69
|
64
|
5
|
0 |
0 |
140
|
Leiden Open Variation Database
|
10
|
0 |
0 |
99
|
0 |
0 |
0 |
109
|
PreventionGenetics, part of Exact Sciences
|
0 |
1
|
17
|
40
|
40
|
0 |
0 |
98
|
Ambry Genetics
|
0 |
0 |
83
|
13
|
0 |
0 |
0 |
96
|
CeGaT Center for Human Genetics Tuebingen
|
4
|
5
|
14
|
57
|
6
|
0 |
0 |
86
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
|
0 |
0 |
0 |
13
|
41
|
0 |
0 |
54
|
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
|
1
|
1
|
49
|
0 |
1
|
0 |
0 |
52
|
Baylor Genetics
|
1
|
2
|
39
|
1
|
0 |
0 |
0 |
43
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
2
|
0 |
20
|
0 |
0 |
22
|
Mendelics
|
2
|
2
|
10
|
3
|
3
|
0 |
0 |
20
|
Revvity Omics, Revvity
|
1
|
1
|
15
|
0 |
0 |
0 |
0 |
17
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
0 |
1
|
8
|
1
|
0 |
0 |
10
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
0 |
0 |
0 |
2
|
8
|
0 |
0 |
10
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
6
|
3
|
0 |
0 |
9
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
1
|
6
|
0 |
0 |
0 |
0 |
8
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
1
|
6
|
0 |
0 |
0 |
0 |
7
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
0 |
6
|
1
|
0 |
0 |
7
|
OMIM
|
6
|
0 |
0 |
0 |
0 |
0 |
0 |
6
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
5
|
0 |
0 |
0 |
5
|
Center of Medical Genetics and Primary Health Care
|
0 |
0 |
4
|
0 |
1
|
0 |
0 |
5
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
0 |
1
|
4
|
0 |
0 |
0 |
0 |
5
|
Gharavi Laboratory, Columbia University
|
0 |
0 |
4
|
0 |
0 |
0 |
0 |
4
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
3
|
0 |
0 |
3
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Eurofins Ntd Llc (ga)
|
0 |
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
0 |
1
|
1
|
0 |
0 |
2
|
New York Genome Center
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
AiLife Diagnostics, AiLife Diagnostics
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
2
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Vantari Genetics
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
IntelligeneCG
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Caryl and Israel Englander Institute for Precision Medicine, Weill Cornell Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Seelig Lab, University of Washington
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Human Developmental Genetics, Institut Pasteur
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
DASA
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Oncology - Human Genetics Lab, University of Sao Paulo
|
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
|
Department of Thoracic Surgery and State Key Laboratory of Genetic Engineering, Fudan University Shanghai Cancer Center
|
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
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