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 |
|
11
|
13
|
60
|
6
|
7
|
4
|
94
|
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
TWNK
|
10
|
13
|
60
|
6
|
7
|
4
|
93
|
|
PITRM1
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
55
|
6
|
7
|
0 |
68
|
|
Baylor Genetics
|
0 |
0 |
6
|
0 |
0 |
0 |
6
|
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
4
|
4
|
|
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics
|
1
|
3
|
0 |
0 |
0 |
0 |
4
|
|
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)
|
0 |
3
|
0 |
0 |
0 |
0 |
3
|
|
OMIM
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
|
3billion
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
|
Institute of Human Genetics Munich, TUM University Hospital
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
King Laboratory, University of Washington
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Genomics England Pilot Project, Genomics England
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
IRCCS Fondazione Stella Maris, University of Pisa
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Kariminejad - Najmabadi Pathology & Genetics Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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