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 |
affects |
not provided |
total |
131
|
93
|
730
|
388
|
104
|
1
|
39
|
1273
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
affects |
not provided |
total |
Invitae
|
94
|
42
|
444
|
279
|
30
|
0 |
0 |
889
|
Eurofins Ntd Llc (ga)
|
41
|
6
|
177
|
5
|
19
|
0 |
0 |
248
|
GeneDx
|
17
|
12
|
41
|
84
|
79
|
0 |
0 |
233
|
Illumina Laboratory Services, Illumina
|
2
|
1
|
117
|
34
|
24
|
0 |
0 |
154
|
Revvity Omics, Revvity
|
22
|
14
|
102
|
0 |
0 |
0 |
0 |
138
|
CeGaT Center for Human Genetics Tuebingen
|
19
|
3
|
21
|
6
|
4
|
0 |
0 |
53
|
Athena Diagnostics Inc
|
10
|
3
|
25
|
5
|
9
|
0 |
0 |
52
|
PreventionGenetics, part of Exact Sciences
|
4
|
0 |
7
|
22
|
11
|
0 |
0 |
44
|
Genome-Nilou Lab
|
0 |
0 |
0 |
2
|
39
|
0 |
0 |
39
|
ANO5 @LOVD
|
0 |
0 |
0 |
0 |
0 |
0 |
32
|
32
|
Ambry Genetics
|
0 |
0 |
27
|
1
|
0 |
0 |
0 |
28
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
3
|
0 |
2
|
4
|
6
|
0 |
0 |
15
|
MGZ Medical Genetics Center
|
5
|
5
|
4
|
0 |
0 |
0 |
0 |
14
|
Mendelics
|
3
|
1
|
3
|
2
|
5
|
0 |
0 |
14
|
Mayo Clinic Laboratories, Mayo Clinic
|
4
|
1
|
9
|
0 |
0 |
0 |
0 |
14
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
6
|
2
|
3
|
1
|
0 |
0 |
0 |
12
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
2
|
0 |
9
|
0 |
0 |
11
|
Fulgent Genetics, Fulgent Genetics
|
5
|
2
|
1
|
1
|
2
|
0 |
0 |
11
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
6
|
5
|
0 |
0 |
0 |
0 |
0 |
11
|
Genetic Services Laboratory, University of Chicago
|
0 |
1
|
2
|
4
|
3
|
0 |
0 |
10
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
3
|
2
|
5
|
0 |
0 |
0 |
0 |
10
|
OMIM
|
9
|
0 |
0 |
0 |
0 |
0 |
0 |
9
|
Clinical Genetics, Academic Medical Center
|
2
|
0 |
0 |
0 |
7
|
0 |
0 |
9
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
2
|
1
|
1
|
4
|
1
|
0 |
0 |
9
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
3
|
0 |
1
|
4
|
0 |
0 |
0 |
8
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
2
|
0 |
0 |
0 |
5
|
0 |
0 |
7
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
0 |
7
|
7
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
2
|
3
|
3
|
0 |
0 |
0 |
0 |
7
|
Baylor Genetics
|
4
|
0 |
2
|
0 |
0 |
0 |
0 |
6
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
1
|
0 |
0 |
1
|
4
|
0 |
0 |
6
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
0 |
1
|
0 |
0 |
5
|
0 |
0 |
6
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
5
|
0 |
0 |
0 |
0 |
0 |
0 |
5
|
Institute of Human Genetics, University of Wuerzburg
|
0 |
2
|
3
|
0 |
0 |
0 |
0 |
5
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
0 |
1
|
2
|
0 |
2
|
0 |
0 |
5
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
2
|
3
|
0 |
0 |
0 |
0 |
0 |
5
|
3billion
|
3
|
2
|
0 |
0 |
0 |
0 |
0 |
5
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
0 |
5
|
5
|
SIB Swiss Institute of Bioinformatics
|
1
|
3
|
0 |
0 |
0 |
0 |
0 |
4
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
2
|
0 |
0 |
0 |
0 |
3
|
NeuroMeGen, Hospital Clinico Santiago de Compostela
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille
|
0 |
0 |
0 |
3
|
0 |
0 |
0 |
3
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
3
|
Kariminejad - Najmabadi Pathology & Genetics Center
|
1
|
2
|
0 |
0 |
0 |
0 |
0 |
3
|
Bionano Laboratories
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Center for Genetic Medicine Research, Children's National Medical Center
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
0 |
1
|
1
|
0 |
0 |
0 |
2
|
GeniaGeo, Laboratorio Genia
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea
|
1
|
0 |
0 |
0 |
0 |
1
|
0 |
2
|
Molecular Genetics, Royal Melbourne Hospital
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Institute for Molecular Bioscience, The University of Queensland
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP 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
|
UCLA Clinical Genomics Center, UCLA
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ISCA Site 6
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Hadassah Hebrew University Medical Center
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Neuromuscular disorders lab, University of Helsinki
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Reproductive Health Research and Development, BGI Genomics
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Lifecell International Pvt. Ltd
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
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