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 |
6
|
5
|
8
|
4
|
24
|
47
|
Gene and significance breakdown #
Total genes and gene combinations: 1
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
PIEZO2
|
6
|
5
|
8
|
4
|
24
|
47
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
24
|
24
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
1
|
4
|
0 |
5
|
Baylor Genetics
|
2
|
0 |
2
|
0 |
0 |
4
|
OMIM
|
3
|
0 |
0 |
0 |
0 |
3
|
University of Washington Center for Mendelian Genomics, University of Washington
|
2
|
0 |
0 |
0 |
0 |
2
|
New York Genome Center
|
0 |
0 |
2
|
0 |
0 |
2
|
3billion
|
1
|
1
|
0 |
0 |
0 |
2
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
2
|
0 |
0 |
2
|
MVZ Medizinische Genetik Mainz
|
0 |
2
|
0 |
0 |
0 |
2
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
1
|
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
|
1
|
0 |
0 |
0 |
0 |
1
|
Daryl Scott Lab, Baylor College of Medicine
|
0 |
0 |
1
|
0 |
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
1
|
0 |
0 |
0 |
1
|
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital
|
0 |
1
|
0 |
0 |
0 |
1
|
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