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 |
3
|
11
|
59
|
53
|
13
|
129
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Invitae
|
0 |
2
|
31
|
44
|
8
|
85
|
GeneDx
|
0 |
2
|
12
|
8
|
11
|
33
|
Ambry Genetics
|
0 |
1
|
8
|
6
|
3
|
18
|
Revvity Omics, Revvity
|
0 |
1
|
4
|
0 |
0 |
5
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
0 |
3
|
2
|
0 |
5
|
PreventionGenetics, part of Exact Sciences
|
0 |
1
|
0 |
3
|
0 |
4
|
Baylor Genetics
|
0 |
1
|
2
|
0 |
0 |
3
|
OMIM
|
2
|
0 |
0 |
0 |
0 |
2
|
Athena Diagnostics Inc
|
0 |
0 |
0 |
0 |
1
|
1
|
Genetic Services Laboratory, University of Chicago
|
0 |
0 |
0 |
0 |
1
|
1
|
MGZ Medical Genetics Center
|
0 |
1
|
0 |
0 |
0 |
1
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
0 |
1
|
0 |
1
|
Duke University Health System Sequencing Clinic, Duke University Health System
|
1
|
0 |
0 |
0 |
0 |
1
|
NeuroMeGen, Hospital Clinico Santiago de Compostela
|
0 |
1
|
0 |
0 |
0 |
1
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
0 |
1
|
0 |
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
0 |
1
|
0 |
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
0 |
1
|
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
1
|
0 |
0 |
0 |
1
|
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill
|
0 |
0 |
1
|
0 |
0 |
1
|
Department of Laboratory Medicine, Yonsei University College of Medicine
|
0 |
1
|
0 |
0 |
0 |
1
|
3billion
|
0 |
0 |
1
|
0 |
0 |
1
|
DASA
|
0 |
1
|
0 |
0 |
0 |
1
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
0 |
1
|
0 |
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
1
|
0 |
0 |
1
|
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