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 |
|
14
|
11
|
16
|
0 |
0 |
3
|
38
|
Gene and significance breakdown #
Total genes and gene combinations: 3
| Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
not provided |
total |
|
PIK3CA
|
13
|
8
|
16
|
3
|
34
|
|
PIK3R1
|
0 |
3
|
0 |
0 |
3
|
|
GNA11
|
1
|
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
not provided |
total |
|
Fulgent Genetics, Fulgent Genetics
|
2
|
0 |
16
|
0 |
18
|
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
8
|
0 |
0 |
0 |
8
|
|
GeneReviews
|
1
|
0 |
0 |
3
|
4
|
|
OMIM
|
4
|
0 |
0 |
0 |
4
|
|
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
|
1
|
1
|
0 |
0 |
2
|
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
1
|
0 |
0 |
2
|
|
Institute of Tissue Medicine and Pathology, University of Bern
|
0 |
2
|
0 |
0 |
2
|
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
1
|
1
|
0 |
0 |
2
|
|
Solve-RD Consortium
|
0 |
2
|
0 |
0 |
2
|
|
Vascular Anomalies Center, Boston Children's Hospital, Harvard Medical School
|
0 |
2
|
0 |
0 |
2
|
|
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen
|
0 |
1
|
0 |
0 |
1
|
|
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein
|
1
|
0 |
0 |
0 |
1
|
|
Dubai Health Genomic Medicine Center, Dubai Health
|
1
|
0 |
0 |
0 |
1
|
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
1
|
0 |
0 |
1
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
0 |
1
|
0 |
0 |
1
|
|
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg
|
1
|
0 |
0 |
0 |
1
|
|
Medical Genetics Laboratory, Aldo Moro University of Bari
|
1
|
0 |
0 |
0 |
1
|
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