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 |
other |
not provided |
total |
216
|
46
|
993
|
688
|
111
|
1
|
10
|
1944
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
other |
not provided |
total |
Invitae
|
152
|
16
|
648
|
533
|
26
|
0 |
0 |
1375
|
Ambry Genetics
|
24
|
10
|
391
|
282
|
27
|
0 |
0 |
734
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
123
|
19
|
28
|
0 |
0 |
170
|
GeneDx
|
15
|
5
|
41
|
39
|
31
|
0 |
0 |
131
|
Genome-Nilou Lab
|
9
|
1
|
79
|
19
|
14
|
0 |
0 |
122
|
Baylor Genetics
|
2
|
2
|
43
|
0 |
0 |
0 |
0 |
47
|
Sema4, Sema4
|
0 |
1
|
14
|
17
|
9
|
0 |
0 |
41
|
CeGaT Center for Human Genetics Tuebingen
|
1
|
0 |
12
|
24
|
2
|
0 |
0 |
39
|
Mendelics
|
12
|
1
|
16
|
4
|
5
|
0 |
0 |
38
|
PreventionGenetics, part of Exact Sciences
|
2
|
0 |
6
|
27
|
2
|
0 |
0 |
37
|
OMIM
|
19
|
0 |
0 |
0 |
0 |
0 |
0 |
19
|
Genetics and Molecular Pathology, SA Pathology
|
11
|
0 |
4
|
0 |
0 |
0 |
0 |
15
|
Color Diagnostics, LLC DBA Color Health
|
0 |
0 |
2
|
7
|
4
|
0 |
0 |
13
|
Athena Diagnostics Inc
|
7
|
0 |
1
|
1
|
3
|
0 |
0 |
12
|
Center for Human Genetics, Inc, Center for Human Genetics, Inc
|
6
|
6
|
0 |
0 |
0 |
0 |
0 |
12
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
2
|
1
|
0 |
2
|
6
|
0 |
0 |
11
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
8
|
2
|
0 |
0 |
0 |
10
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
|
0 |
0 |
0 |
3
|
5
|
0 |
0 |
8
|
Revvity Omics, Revvity
|
1
|
0 |
6
|
0 |
0 |
0 |
0 |
7
|
ITMI
|
0 |
0 |
0 |
0 |
0 |
0 |
7
|
7
|
Genetic Services Laboratory, University of Chicago
|
0 |
0 |
1
|
5
|
0 |
0 |
0 |
6
|
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
|
0 |
0 |
6
|
0 |
0 |
0 |
0 |
6
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
3
|
1
|
0 |
1
|
1
|
0 |
0 |
6
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
3
|
1
|
0 |
0 |
0 |
0 |
0 |
4
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
0 |
3
|
0 |
0 |
0 |
0 |
3
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
1
|
1
|
1
|
0 |
0 |
3
|
MGZ Medical Genetics Center
|
1
|
0 |
2
|
0 |
0 |
0 |
0 |
3
|
Eurofins Ntd Llc (ga)
|
0 |
0 |
2
|
1
|
0 |
0 |
0 |
3
|
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
|
0 |
0 |
1
|
2
|
0 |
0 |
0 |
3
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
0 |
2
|
0 |
0 |
0 |
0 |
3
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
0 |
0 |
3
|
0 |
0 |
0 |
0 |
3
|
New York Genome Center
|
0 |
0 |
3
|
0 |
0 |
0 |
0 |
3
|
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Department of Pediatrics, Memorial Sloan Kettering Cancer Center
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
2
|
MutSpliceDB: a database of splice sites variants effects on splicing, NIH
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Swedish Neurofibromatosis Center, Swedish Medical Center
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Biesecker Lab/Clinical Genomics Section, National Institutes of Health
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Medical Genomics Laboratory, Department of Genetics UAB
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Laboratory of Gastroenterology and Hepatology, Radboud University Medical Center
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Bionano Laboratories
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Quest Diagnostics Nichols Institute San Juan Capistrano
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Center of Genomic medicine, Geneva, University Hospital of Geneva
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
McDonnell Genome Institute, Washington University in St. Louis
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Donald Williams Parsons Laboratory, Baylor College of Medicine
|
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Center of Medical Genetics and Primary Health Care
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
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
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Papaemmanuil Lab, Memorial Sloan Kettering Cancer Research Center
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
3billion
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Cell and Gene Engineering Laboratory, Zhejiang University
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Provincial Medical Genetics Program of British Columbia, University of British Columbia
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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