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 |
51
|
31
|
527
|
467
|
76
|
3
|
1017
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
31
|
13
|
357
|
367
|
44
|
0 |
812
|
Ambry Genetics
|
4
|
2
|
110
|
77
|
18
|
0 |
211
|
GeneDx
|
2
|
1
|
36
|
58
|
32
|
0 |
129
|
Illumina Laboratory Services, Illumina
|
0 |
1
|
80
|
11
|
21
|
0 |
113
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
2
|
32
|
29
|
2
|
0 |
65
|
PreventionGenetics, part of Exact Sciences
|
1
|
0 |
4
|
21
|
14
|
0 |
40
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
17
|
8
|
14
|
0 |
39
|
Fulgent Genetics, Fulgent Genetics
|
1
|
3
|
25
|
7
|
1
|
0 |
37
|
Athena Diagnostics Inc
|
0 |
1
|
7
|
1
|
22
|
0 |
31
|
Genetic Services Laboratory, University of Chicago
|
0 |
0 |
7
|
4
|
10
|
0 |
21
|
Eurofins Ntd Llc (ga)
|
1
|
0 |
12
|
2
|
5
|
0 |
20
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
11
|
9
|
0 |
20
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
2
|
3
|
6
|
3
|
2
|
0 |
16
|
Baylor Genetics
|
4
|
3
|
7
|
0 |
0 |
0 |
14
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
9
|
5
|
0 |
14
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
0 |
0 |
0 |
5
|
9
|
0 |
14
|
OMIM
|
13
|
0 |
0 |
0 |
0 |
0 |
13
|
Revvity Omics, Revvity
|
1
|
1
|
8
|
0 |
0 |
0 |
10
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
8
|
0 |
8
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
0 |
0 |
0 |
0 |
7
|
0 |
7
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
7
|
0 |
0 |
0 |
7
|
AiLife Diagnostics, AiLife Diagnostics
|
1
|
2
|
1
|
0 |
0 |
0 |
4
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
1
|
3
|
0 |
0 |
0 |
4
|
Mendelics
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
Undiagnosed Diseases Network, NIH
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
0 |
2
|
0 |
0 |
2
|
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
3billion
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Institute of Human Genetics, University of Goettingen
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Richard Lifton Laboratory, Yale University School of Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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