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 |
246
|
167
|
375
|
166
|
59
|
912
|
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
|
207
|
133
|
142
|
23
|
34
|
539
|
Invitae
|
19
|
6
|
132
|
129
|
27
|
313
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
120
|
18
|
35
|
173
|
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology
|
21
|
16
|
15
|
0 |
0 |
51
|
OMIM
|
27
|
0 |
0 |
0 |
0 |
27
|
NIHR Bioresource Rare Diseases, University of Cambridge
|
7
|
13
|
5
|
0 |
0 |
25
|
Departement d'Immunology Plaquettaire, Institut National de la Transfusion Sanguine
|
7
|
1
|
1
|
0 |
0 |
9
|
3billion
|
4
|
0 |
4
|
0 |
0 |
8
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
4
|
2
|
1
|
0 |
0 |
7
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
2
|
2
|
0 |
0 |
0 |
4
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
1
|
2
|
0 |
3
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
3
|
3
|
Baylor Genetics
|
1
|
1
|
0 |
0 |
0 |
2
|
Division of Human Genetics, Children's Hospital of Philadelphia
|
0 |
0 |
2
|
0 |
0 |
2
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
1
|
1
|
0 |
0 |
2
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
0 |
1
|
0 |
0 |
2
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
0 |
2
|
0 |
0 |
0 |
2
|
KardioGenetik, Herz- und Diabeteszentrum NRW
|
1
|
0 |
1
|
0 |
0 |
2
|
UCLA Clinical Genomics Center, UCLA
|
1
|
0 |
0 |
0 |
0 |
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
1
|
0 |
0 |
0 |
1
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
1
|
0 |
0 |
0 |
1
|
Unidade de Genética Molecular, Centro Hospitalar Universitário do Porto
|
0 |
0 |
1
|
0 |
0 |
1
|
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