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 |
152
|
102
|
360
|
454
|
24
|
3
|
992
|
Gene and significance breakdown #
Total genes and gene combinations: 3
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
124
|
16
|
298
|
440
|
20
|
0 |
898
|
Natera, Inc.
|
28
|
1
|
36
|
22
|
6
|
0 |
93
|
Baylor Genetics
|
42
|
36
|
1
|
0 |
0 |
0 |
79
|
GeneReviews
|
56
|
0 |
0 |
0 |
3
|
2
|
61
|
Illumina Laboratory Services, Illumina
|
3
|
2
|
44
|
7
|
3
|
0 |
59
|
Counsyl
|
6
|
23
|
27
|
1
|
0 |
0 |
57
|
Fulgent Genetics, Fulgent Genetics
|
12
|
1
|
10
|
2
|
0 |
0 |
25
|
Myriad Genetics, Inc.
|
4
|
17
|
0 |
0 |
0 |
0 |
21
|
Revvity Omics, Revvity Omics
|
12
|
3
|
2
|
0 |
0 |
0 |
17
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
7
|
7
|
0 |
0 |
0 |
0 |
14
|
OMIM
|
13
|
0 |
0 |
0 |
0 |
0 |
13
|
Mendelics
|
3
|
2
|
0 |
1
|
0 |
0 |
6
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
1
|
0 |
4
|
0 |
0 |
5
|
Institute of Human Genetics, University of Leipzig Medical Center
|
4
|
0 |
0 |
0 |
0 |
0 |
4
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
Unidad de Genómica Médica UC, Pontificia Universidad Católica de Chile
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
3billion
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
1
|
1
|
0 |
2
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Genetic Services Laboratory, University of Chicago
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
MGZ Medical Genetics Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
SingHealth Duke-NUS Institute of Precision Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Broad Institute Rare Disease Group, Broad Institute
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Genetics, Amsterdam Medical Centre
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
New York Genome Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genome-Nilou Lab
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Pars Genome Lab
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
DASA
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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