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 |
|
171
|
91
|
2651
|
1201
|
86
|
34
|
4010
|
Condition and significance breakdown #
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
Labcorp Genetics (formerly Invitae), Labcorp
|
159
|
24
|
1390
|
688
|
46
|
0 |
2307
|
|
Ambry Genetics
|
0 |
0 |
1422
|
744
|
0 |
0 |
2166
|
|
GeneDx
|
1
|
39
|
661
|
75
|
45
|
0 |
821
|
|
Quest Diagnostics Nichols Institute San Juan Capistrano
|
4
|
9
|
297
|
70
|
33
|
0 |
413
|
|
Fulgent Genetics, Fulgent Genetics
|
0 |
9
|
233
|
29
|
0 |
0 |
271
|
|
PreventionGenetics, part of Exact Sciences
|
3
|
9
|
46
|
50
|
20
|
0 |
128
|
|
Sema4, Sema4
|
2
|
2
|
60
|
26
|
3
|
0 |
93
|
|
CeGaT Center for Human Genetics Tuebingen
|
9
|
6
|
15
|
49
|
2
|
0 |
81
|
|
Genetic Services Laboratory, University of Chicago
|
1
|
1
|
29
|
17
|
11
|
0 |
59
|
|
Breakthrough Genomics, Breakthrough Genomics
|
0 |
0 |
8
|
24
|
20
|
0 |
52
|
|
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
|
2
|
0 |
33
|
1
|
0 |
0 |
36
|
|
Mendelics
|
2
|
1
|
15
|
15
|
1
|
0 |
34
|
|
Baylor Genetics
|
3
|
2
|
28
|
0 |
0 |
0 |
33
|
|
Dr. Peter K. Rogan Lab, Western University
|
0 |
0 |
0 |
0 |
0 |
30
|
30
|
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
|
0 |
0 |
0 |
2
|
26
|
0 |
28
|
|
Cancer Genomics Group, Japanese Foundation For Cancer Research
|
0 |
2
|
21
|
1
|
0 |
0 |
24
|
|
Revvity Omics, Revvity
|
1
|
4
|
9
|
0 |
0 |
0 |
14
|
|
GeneKor MSA
|
0 |
0 |
0 |
0 |
13
|
0 |
13
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
1
|
3
|
6
|
0 |
2
|
0 |
12
|
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
1
|
1
|
4
|
6
|
0 |
12
|
|
OMIM
|
8
|
0 |
2
|
0 |
0 |
0 |
10
|
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
0 |
0 |
8
|
0 |
8
|
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
0 |
0 |
0 |
2
|
6
|
0 |
8
|
|
Dasa
|
2
|
0 |
1
|
2
|
1
|
0 |
6
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
6
|
0 |
6
|
|
Gharavi Laboratory, Columbia University
|
0 |
0 |
6
|
0 |
0 |
0 |
6
|
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
0 |
1
|
5
|
0 |
6
|
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
1
|
1
|
3
|
0 |
0 |
0 |
5
|
|
Molecular Diagnostics Laboratory, Catalan Institute of Oncology
|
0 |
0 |
2
|
1
|
1
|
0 |
4
|
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
2
|
1
|
0 |
3
|
|
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
|
0 |
3
|
0 |
0 |
0 |
0 |
3
|
|
First Genomix Gene Laboratory, Genetic Diagnostics Department
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
|
Division of Medical Genetics, University of Washington
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
|
Laan Lab, Human Genetics Research Group, University of Tartu
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
|
Molecular Oncology - Human Genetics Lab, University of Sao Paulo
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Center for Individualized Medicine, Mayo Clinic
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Daryl Scott Lab, Baylor College of Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Department of Genetics and Molecular Biology, Isfahan University of Medical Sciences
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Genetics and Personalized Medicine Clinic, Tartu University Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Genetics of Infertility and Preimplantation Genetic Diagnosis, Centre Hospitalier Universitaire Grenoble Alpes
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
|
Institute of Immunology and Genetics Kaiserslautern
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Laboratorio de I+D, Fundación Centro Médico de Asturias
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
|
Laboratory of Genetics, Children's Clinical University Hospital Latvia
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Medical Genetics, Medical University Pleven
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Reproductive Development, Murdoch Childrens Research Institute
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Zero Childhood Cancer Program, Children's Cancer Institute
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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