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 |
242
|
102
|
1300
|
928
|
483
|
51
|
2597
|
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
|
145
|
30
|
864
|
614
|
24
|
0 |
1675
|
Ambry Genetics
|
95
|
30
|
620
|
367
|
53
|
0 |
1165
|
Color Diagnostics, LLC DBA Color Health
|
11
|
6
|
332
|
234
|
15
|
0 |
598
|
Myriad Genetics, Inc.
|
57
|
14
|
17
|
139
|
337
|
0 |
564
|
GeneDx
|
9
|
10
|
177
|
112
|
99
|
0 |
407
|
All of Us Research Program, National Institutes of Health
|
1
|
1
|
210
|
103
|
5
|
0 |
320
|
Baylor Genetics
|
2
|
5
|
148
|
0 |
0 |
0 |
155
|
Quest Diagnostics Nichols Institute San Juan Capistrano
|
7
|
5
|
73
|
22
|
17
|
0 |
124
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
3
|
2
|
46
|
36
|
9
|
0 |
96
|
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
|
0 |
1
|
28
|
54
|
8
|
0 |
91
|
Sema4, Sema4
|
0 |
0 |
43
|
25
|
11
|
0 |
79
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
29
|
9
|
16
|
0 |
54
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
1
|
2
|
27
|
18
|
6
|
0 |
54
|
PreventionGenetics, part of Exact Sciences
|
0 |
0 |
22
|
14
|
8
|
0 |
44
|
Wendy Chung Laboratory, Boston Children's Hospital
|
0 |
0 |
1
|
0 |
0 |
42
|
43
|
Counsyl
|
0 |
0 |
23
|
13
|
0 |
0 |
36
|
Fulgent Genetics, Fulgent Genetics
|
0 |
1
|
27
|
0 |
0 |
0 |
28
|
CeGaT Center for Human Genetics Tuebingen
|
2
|
1
|
4
|
12
|
4
|
0 |
23
|
Breakthrough Genomics, Breakthrough Genomics
|
0 |
0 |
3
|
8
|
12
|
0 |
23
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
|
0 |
0 |
0 |
3
|
16
|
0 |
19
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
7
|
4
|
6
|
0 |
17
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
1
|
1
|
2
|
4
|
7
|
0 |
15
|
University of Washington Department of Laboratory Medicine, University of Washington
|
4
|
0 |
2
|
7
|
0 |
0 |
13
|
Genetic Services Laboratory, University of Chicago
|
0 |
0 |
3
|
7
|
2
|
0 |
12
|
OMIM
|
9
|
0 |
0 |
0 |
0 |
0 |
9
|
Revvity Omics, Revvity
|
2
|
0 |
6
|
0 |
0 |
0 |
8
|
Clinical Genetics, Academic Medical Center
|
0 |
0 |
1
|
1
|
6
|
0 |
8
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
0 |
0 |
1
|
1
|
6
|
0 |
8
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
0 |
0 |
8
|
0 |
0 |
0 |
8
|
True Health Diagnostics
|
0 |
0 |
1
|
6
|
0 |
0 |
7
|
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
|
0 |
0 |
6
|
0 |
0 |
0 |
6
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
0 |
5
|
0 |
0 |
0 |
5
|
ITMI
|
0 |
0 |
0 |
0 |
0 |
5
|
5
|
Biesecker Lab/Clinical Genomics Section, National Institutes of Health
|
0 |
0 |
3
|
0 |
1
|
0 |
4
|
Mendelics
|
1
|
0 |
1
|
0 |
2
|
0 |
4
|
GeneKor MSA
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
0 |
0 |
0 |
0 |
4
|
0 |
4
|
3billion
|
1
|
1
|
2
|
0 |
0 |
0 |
4
|
Molecular Diagnostics Laboratory, Catalan Institute of Oncology
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
Eurofins Ntd Llc (ga)
|
0 |
0 |
0 |
1
|
2
|
0 |
3
|
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.
|
0 |
0 |
0 |
0 |
3
|
0 |
3
|
Clinical Genetics Laboratory, Skane University Hospital Lund
|
0 |
3
|
0 |
0 |
0 |
0 |
3
|
MGZ Medical Genetics Center
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
CSER _CC_NCGL, University of Washington
|
0 |
0 |
1
|
1
|
0 |
0 |
2
|
Clinical Genetics and Genomics, Karolinska University Hospital
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
Department of Molecular Diagnostics, Institute of Oncology Ljubljana
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Hereditary Cancer Laboratory, Hospital Universitario 12 de Octubre
|
0 |
0 |
1
|
0 |
1
|
0 |
2
|
Solve-RD Consortium
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Centogene AG - the Rare Disease Company
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Academic Department of Medical Genetics, University of Cambridge
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Pathway Genomics
|
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 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Clinical Cancer Genetics and Family Consultants, Athens Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
deCODE genetics, Amgen
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Medical Genetics Laboratory, West China Hospital, Sichuan University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Human Genetics Bochum, Ruhr University Bochum
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
University of Science and Technology Houari Boumediene, Laboratory of Molecular and Cellular Biology (LBCM)
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
MVZ Medizinische Genetik Mainz
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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