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 |
drug response |
established risk allele |
pathogenic, low penetrance |
risk factor |
not provided |
total |
59
|
29
|
342
|
550
|
183
|
1
|
1
|
1
|
1
|
3
|
1004
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
drug response |
established risk allele |
pathogenic, low penetrance |
risk factor |
not provided |
total |
Invitae
|
37
|
11
|
28
|
452
|
86
|
0 |
0 |
0 |
0 |
0 |
614
|
Illumina Laboratory Services, Illumina
|
1
|
1
|
151
|
67
|
47
|
0 |
0 |
0 |
0 |
0 |
207
|
Ambry Genetics
|
1
|
0 |
88
|
66
|
0 |
0 |
0 |
0 |
0 |
0 |
155
|
GeneDx
|
2
|
1
|
19
|
0 |
122
|
0 |
0 |
0 |
0 |
0 |
144
|
PreventionGenetics, part of Exact Sciences
|
0 |
1
|
21
|
13
|
32
|
0 |
0 |
0 |
0 |
0 |
67
|
CeGaT Center for Human Genetics Tuebingen
|
2
|
0 |
15
|
14
|
3
|
0 |
0 |
0 |
0 |
0 |
34
|
NIHR Bioresource Rare Diseases, University of Cambridge
|
1
|
11
|
10
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
21
|
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology
|
3
|
4
|
14
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
21
|
OMIM
|
14
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
14
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
0 |
0 |
0 |
0 |
11
|
0 |
0 |
0 |
0 |
0 |
11
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
11
|
0 |
0 |
0 |
0 |
0 |
11
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
1
|
1
|
8
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
11
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
1
|
0 |
6
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
8
|
Revvity Omics, Revvity
|
0 |
0 |
6
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
6
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
1
|
4
|
1
|
0 |
0 |
0 |
0 |
0 |
6
|
Baylor Genetics
|
2
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
1
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
0 |
3
|
Mendelics
|
1
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
3
|
Hubei Clinical and Research Center of Thrombosis and Hemostasis Institute of Hematology, Union Hospital
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
3billion
|
1
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Birmingham Platelet Group; University of Birmingham
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Phenosystems SA
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Natera, Inc.
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Science for Life laboratory, Karolinska Institutet
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
PharmGKB
|
0 |
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Clinical Genetics, Erasmus University Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Undiagnosed Diseases Network, NIH
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Phosphorus, Inc.
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Variantyx, Inc.
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Medical Genetics Laboratory, West China Hospital, Sichuan University
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
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