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 |
total |
202
|
132
|
427
|
1011
|
156
|
1798
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Invitae
|
185
|
40
|
284
|
913
|
70
|
1492
|
GeneDx
|
6
|
6
|
21
|
86
|
114
|
233
|
Illumina Laboratory Services, Illumina
|
0 |
1
|
77
|
16
|
31
|
125
|
Counsyl
|
8
|
42
|
17
|
1
|
0 |
68
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
4
|
0 |
13
|
21
|
27
|
65
|
Ambry Genetics
|
3
|
0 |
47
|
3
|
0 |
53
|
Myriad Genetics, Inc.
|
1
|
37
|
1
|
0 |
0 |
39
|
Eurofins Ntd Llc (ga)
|
3
|
0 |
18
|
9
|
8
|
38
|
Fulgent Genetics, Fulgent Genetics
|
5
|
7
|
10
|
6
|
1
|
29
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
0 |
6
|
17
|
4
|
27
|
Preventiongenetics, part of Exact Sciences
|
1
|
1
|
2
|
5
|
14
|
23
|
OMIM
|
13
|
0 |
0 |
0 |
0 |
13
|
Revvity Omics, Revvity Omics
|
6
|
0 |
4
|
0 |
0 |
10
|
University of Washington Center for Mendelian Genomics, University of Washington
|
0 |
8
|
0 |
0 |
0 |
8
|
Dan Cohn Lab, University Of California Los Angeles
|
5
|
1
|
2
|
0 |
0 |
8
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
0 |
5
|
0 |
0 |
6
|
Baylor Genetics
|
1
|
0 |
4
|
0 |
0 |
5
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
5
|
0 |
0 |
5
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
0 |
4
|
4
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
0 |
0 |
4
|
0 |
4
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
1
|
1
|
2
|
4
|
Gharavi Laboratory, Columbia University
|
0 |
0 |
4
|
0 |
0 |
4
|
Genetic Services Laboratory, University of Chicago
|
0 |
0 |
0 |
2
|
1
|
3
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
2
|
1
|
0 |
0 |
0 |
3
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
1
|
2
|
0 |
3
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
1
|
1
|
0 |
0 |
0 |
2
|
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre
|
1
|
1
|
0 |
0 |
0 |
2
|
Blueprint Genetics
|
0 |
1
|
1
|
0 |
0 |
2
|
Centre for Genomic and Experimental Medicine, University of Edinburgh
|
2
|
0 |
0 |
0 |
0 |
2
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
1
|
1
|
0 |
0 |
2
|
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics
|
1
|
1
|
0 |
0 |
0 |
2
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
2
|
2
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
1
|
1
|
0 |
0 |
0 |
2
|
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
|
1
|
0 |
0 |
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
0 |
0 |
1
|
0 |
0 |
1
|
Natera, Inc.
|
0 |
0 |
0 |
0 |
1
|
1
|
Bionano Laboratories
|
0 |
0 |
1
|
0 |
0 |
1
|
Quest Diagnostics Nichols Institute San Juan Capistrano
|
1
|
0 |
0 |
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
1
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
1
|
0 |
0 |
0 |
0 |
1
|
Rare Disease Group, Clinical Genetics, Karolinska Institutet
|
0 |
0 |
1
|
0 |
0 |
1
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
0 |
0 |
1
|
1
|
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences
|
1
|
0 |
0 |
0 |
0 |
1
|
AiLife Diagnostics, AiLife Diagnostics
|
0 |
0 |
1
|
0 |
0 |
1
|
Lifecell International Pvt. Ltd
|
1
|
0 |
0 |
0 |
0 |
1
|
Pediatric Genetics Clinic, Sheba Medical Center
|
1
|
0 |
0 |
0 |
0 |
1
|
DASA
|
1
|
0 |
0 |
0 |
0 |
1
|
Stomatology Center, Xiangya Hospital, Central South University
|
0 |
0 |
1
|
0 |
0 |
1
|
Prenatal Diagnosis Center, International Peace Maternity & Child Health Hospital
|
1
|
0 |
0 |
0 |
0 |
1
|
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