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 |
|
284
|
199
|
506
|
267
|
66
|
1182
|
Gene and significance breakdown #
Total genes and gene combinations: 10
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
|
ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen
|
233
|
136
|
157
|
45
|
37
|
608
|
|
Labcorp Genetics (formerly Invitae), Labcorp
|
25
|
12
|
262
|
219
|
31
|
549
|
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
110
|
18
|
35
|
163
|
|
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology
|
21
|
16
|
15
|
0 |
0 |
51
|
|
Fulgent Genetics, Fulgent Genetics
|
8
|
16
|
4
|
2
|
0 |
30
|
|
OMIM
|
27
|
0 |
0 |
0 |
0 |
27
|
|
NIHR Bioresource Rare Diseases, University of Cambridge
|
7
|
13
|
5
|
0 |
0 |
25
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
15
|
8
|
0 |
0 |
0 |
23
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
5
|
4
|
7
|
0 |
1
|
17
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
3
|
9
|
2
|
0 |
14
|
|
3billion
|
6
|
0 |
4
|
0 |
0 |
10
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
6
|
2
|
2
|
0 |
0 |
10
|
|
Departement d'Immunology Plaquettaire, Institut National de la Transfusion Sanguine
|
7
|
1
|
1
|
0 |
0 |
9
|
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
1
|
3
|
0 |
0 |
0 |
4
|
|
Baylor Genetics
|
2
|
1
|
0 |
0 |
0 |
3
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
3
|
3
|
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
3
|
0 |
0 |
0 |
0 |
3
|
|
Cell Therapy Center, University of Jordan
|
1
|
1
|
0 |
0 |
0 |
2
|
|
Division of Human Genetics, Children's Hospital of Philadelphia
|
0 |
0 |
2
|
0 |
0 |
2
|
|
Dubai Health Genomic Medicine Center, Dubai Health
|
0 |
2
|
0 |
0 |
0 |
2
|
|
First Genomix Gene Laboratory, Genetic Diagnostics Department
|
0 |
2
|
0 |
0 |
0 |
2
|
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
0 |
1
|
0 |
0 |
2
|
|
KardioGenetik, Herz- und Diabeteszentrum NRW
|
1
|
0 |
1
|
0 |
0 |
2
|
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
0 |
2
|
0 |
0 |
0 |
2
|
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
1
|
1
|
0 |
0 |
2
|
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Molecular Genetics, Raz Pathobiology and Genetic Laboratory
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Palindrome, Gene Kavoshgaran Aria
|
1
|
0 |
0 |
0 |
0 |
1
|
|
UCLA Clinical Genomics Center, UCLA
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Unidade de Genética Molecular, Centro Hospitalar Universitário do Porto
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Variantyx, Inc.
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
0 |
0 |
0 |
1
|
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