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 |
31
|
28
|
326
|
92
|
63
|
1
|
500
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Illumina Laboratory Services, Illumina
|
1
|
0 |
153
|
16
|
28
|
0 |
198
|
Ambry Genetics
|
0 |
0 |
126
|
7
|
0 |
0 |
133
|
PreventionGenetics, part of Exact Sciences
|
1
|
2
|
5
|
45
|
26
|
0 |
79
|
Invitae
|
1
|
0 |
0 |
20
|
27
|
0 |
48
|
GeneDx
|
1
|
0 |
9
|
2
|
27
|
0 |
39
|
NIHR Bioresource Rare Diseases, University of Cambridge
|
16
|
5
|
14
|
0 |
0 |
0 |
35
|
Genetic Services Laboratory, University of Chicago
|
2
|
0 |
12
|
11
|
7
|
0 |
32
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
1
|
9
|
12
|
1
|
0 |
23
|
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology
|
1
|
13
|
6
|
0 |
0 |
0 |
20
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
0 |
9
|
3
|
0 |
0 |
12
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
0 |
0 |
10
|
0 |
0 |
0 |
10
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
0 |
0 |
0 |
2
|
6
|
0 |
8
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
8
|
0 |
8
|
OMIM
|
7
|
0 |
0 |
0 |
0 |
0 |
7
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
1
|
0 |
0 |
6
|
0 |
7
|
Birmingham Platelet Group; University of Birmingham
|
1
|
0 |
5
|
0 |
0 |
0 |
6
|
Eurofins Ntd Llc (ga)
|
0 |
0 |
5
|
0 |
0 |
0 |
5
|
Baylor Genetics
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
1
|
1
|
1
|
0 |
0 |
3
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Revvity Omics, Revvity
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Division of Human Genetics, Children's Hospital of Philadelphia
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Hadassah Hebrew University Medical Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
MutSpliceDB: a database of splice sites variants effects on splicing, NIH
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Johns Hopkins Genomics, Johns Hopkins University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
New York Genome Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Immunogenetics of Pediatric Autoimmune Diseases, Institut Imagine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Refractive Surgery Department, Bright Eye Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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