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 |
|
40
|
48
|
634
|
644
|
147
|
1
|
1421
|
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
|
32
|
14
|
437
|
476
|
51
|
0 |
1010
|
|
Ambry Genetics
|
11
|
1
|
308
|
121
|
18
|
0 |
459
|
|
GeneDx
|
2
|
2
|
65
|
111
|
121
|
0 |
301
|
|
Fulgent Genetics, Fulgent Genetics
|
3
|
10
|
46
|
8
|
0 |
0 |
67
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
2
|
2
|
13
|
22
|
16
|
0 |
55
|
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
4
|
12
|
11
|
24
|
0 |
51
|
|
PreventionGenetics, part of Exact Sciences
|
0 |
2
|
1
|
16
|
18
|
0 |
37
|
|
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute
|
0 |
1
|
9
|
10
|
12
|
0 |
32
|
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
11
|
12
|
8
|
0 |
31
|
|
Clinical Genetics, Academic Medical Center
|
0 |
0 |
1
|
1
|
18
|
0 |
20
|
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
1
|
5
|
9
|
3
|
0 |
18
|
|
Breakthrough Genomics, Breakthrough Genomics
|
0 |
0 |
3
|
14
|
0 |
0 |
17
|
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
0 |
0 |
1
|
5
|
10
|
0 |
16
|
|
AiLife Diagnostics, AiLife Diagnostics
|
2
|
7
|
1
|
0 |
0 |
0 |
10
|
|
Revvity Omics, Revvity
|
1
|
6
|
2
|
0 |
0 |
0 |
9
|
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
1
|
8
|
0 |
0 |
0 |
9
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
8
|
0 |
8
|
|
OMIM
|
7
|
0 |
0 |
0 |
0 |
0 |
7
|
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
4
|
1
|
1
|
0 |
6
|
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
6
|
0 |
0 |
0 |
6
|
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
6
|
0 |
6
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
|
Bionano Laboratories
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
|
Eurofins Ntd Llc (ga)
|
0 |
0 |
1
|
0 |
2
|
0 |
3
|
|
Stanford Center for Inherited Cardiovascular Disease, Stanford University
|
0 |
1
|
2
|
0 |
0 |
0 |
3
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
2
|
1
|
0 |
0 |
0 |
3
|
|
Baylor Genetics
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
0 |
2
|
0 |
0 |
2
|
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
1
|
1
|
0 |
2
|
|
Clinical Genomics Laboratory, Stanford Medicine
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
|
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Mendelics
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
|
Quest Diagnostics Nichols Institute San Juan Capistrano
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Clinical Genetics Laboratory, Skane University Hospital Lund
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
New York Genome Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
KardioGenetik, Herz- und Diabeteszentrum NRW
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Department of Clinical Pathology, School of Medicine, Fujita Health University
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
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