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 |
120
|
19
|
410
|
130
|
58
|
2
|
717
|
Gene and significance breakdown #
Total genes and gene combinations: 1
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
FLCN
|
120
|
19
|
410
|
130
|
58
|
2
|
717
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
99
|
12
|
363
|
125
|
16
|
0 |
615
|
Illumina Clinical Services Laboratory,Illumina
|
0 |
0 |
42
|
5
|
48
|
0 |
95
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia
|
41
|
4
|
12
|
1
|
2
|
0 |
60
|
OMIM
|
8
|
0 |
0 |
0 |
0 |
0 |
8
|
Mendelics
|
1
|
0 |
3
|
2
|
0 |
0 |
6
|
GeneReviews
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
CSER _CC_NCGL, University of Washington
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Institute of Human Genetics,Cologne University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
UCLA Clinical Genomics Center, UCLA
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Department of Medical Genetics,Gazi University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Johns Hopkins Genomics,Johns Hopkins University
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Division of Respiratory Medicine of Juntendo University, Juntendo University Faculty of Medicine and Graduate School of Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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