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 |
risk factor |
not provided |
total |
33
|
22
|
465
|
389
|
25
|
4
|
1
|
876
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
risk factor |
not provided |
total |
Invitae
|
22
|
8
|
379
|
264
|
13
|
0 |
0 |
686
|
Ambry Genetics
|
9
|
4
|
153
|
218
|
0 |
0 |
0 |
384
|
GeneDx
|
3
|
3
|
43
|
18
|
12
|
0 |
0 |
79
|
Baylor Genetics
|
0 |
2
|
31
|
0 |
0 |
0 |
0 |
33
|
CeGaT Center for Human Genetics Tuebingen
|
1
|
2
|
5
|
11
|
2
|
0 |
0 |
21
|
PreventionGenetics, part of Exact Sciences
|
0 |
0 |
8
|
12
|
0 |
0 |
0 |
20
|
OMIM
|
2
|
0 |
0 |
0 |
0 |
4
|
0 |
6
|
Genetic Services Laboratory, University of Chicago
|
1
|
1
|
0 |
2
|
0 |
0 |
0 |
4
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
|
0 |
0 |
0 |
3
|
1
|
0 |
0 |
4
|
Revvity Omics, Revvity
|
0 |
0 |
3
|
0 |
0 |
0 |
0 |
3
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
2
|
0 |
0 |
0 |
0 |
0 |
3
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
Gharavi Laboratory, Columbia University
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
New York Genome Center
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Mendelics
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Duke University Health System Sequencing Clinic, Duke University Health System
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Diagnostic Laboratory, Strasbourg University Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Medical Genetics, Meyer Children Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
MutSpliceDB: a database of splice sites variants effects on splicing, NIH
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Genetics Laboratory - UDIAT Centre Diagnòstic, Hospital Universitari Parc Tauli
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
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