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 |
115
|
89
|
439
|
400
|
44
|
34
|
998
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
91
|
18
|
211
|
292
|
21
|
0 |
633
|
Counsyl
|
0 |
27
|
187
|
130
|
0 |
0 |
344
|
Natera, Inc.
|
11
|
1
|
58
|
7
|
9
|
0 |
86
|
GeneDx
|
4
|
2
|
18
|
23
|
30
|
0 |
77
|
Baylor Genetics
|
36
|
30
|
2
|
0 |
0 |
0 |
68
|
Fulgent Genetics, Fulgent Genetics
|
5
|
7
|
39
|
8
|
0 |
0 |
59
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
37
|
1
|
7
|
0 |
45
|
Ambry Genetics
|
1
|
0 |
33
|
8
|
0 |
0 |
42
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
20
|
10
|
6
|
1
|
3
|
0 |
40
|
PreventionGenetics, part of Exact Sciences
|
1
|
1
|
8
|
14
|
10
|
0 |
34
|
UniProtKB/Swiss-Prot
|
0 |
0 |
0 |
0 |
0 |
32
|
32
|
Eurofins Ntd Llc (ga)
|
1
|
0 |
12
|
1
|
3
|
0 |
17
|
CeGaT Center for Human Genetics Tuebingen
|
4
|
3
|
4
|
3
|
3
|
0 |
17
|
OMIM
|
16
|
0 |
0 |
0 |
0 |
0 |
16
|
Genome-Nilou Lab
|
0 |
0 |
4
|
1
|
6
|
0 |
11
|
Revvity Omics, Revvity
|
4
|
0 |
5
|
0 |
0 |
0 |
9
|
Mendelics
|
3
|
3
|
0 |
0 |
1
|
0 |
7
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
0 |
0 |
5
|
0 |
5
|
Centre for Human Genetics
|
2
|
1
|
2
|
0 |
0 |
0 |
5
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
3
|
1
|
0 |
0 |
4
|
Myriad Genetics, Inc.
|
2
|
2
|
0 |
0 |
0 |
0 |
4
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
2
|
1
|
0 |
3
|
Centogene AG - the Rare Disease Company
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
3
|
3
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
1
|
2
|
0 |
0 |
3
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
1
|
2
|
0 |
0 |
3
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
0 |
1
|
1
|
0 |
2
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
3billion
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
DASA
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
University of Washington Center for Mendelian Genomics, University of Washington
|
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
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
SIB Swiss Institute of Bioinformatics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Laboratory of Functional Genomics, Research Centre for Medical Genetics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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