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 |
8
|
6
|
11
|
1
|
13
|
39
|
Gene and significance breakdown #
Total genes and gene combinations: 3
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
TRIO
|
7
|
6
|
9
|
1
|
13
|
36
|
LOC126807323, TRIO
|
0 |
0 |
2
|
0 |
0 |
2
|
ANKH, ANKRD33B, ATPSCKMT, BASP1, CCT5, CMBL, CTNND2, DAP, DNAH5, FBXL7, LINC01194, MARCHF11, MARCHF6, MYO10, OTULIN, OTULIN-DT, OTULINL, RETREG1, ROPN1L, TRIO, ZNF622
|
1
|
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
13
|
13
|
SIB Swiss Institute of Bioinformatics
|
5
|
1
|
0 |
0 |
0 |
6
|
OMIM
|
4
|
0 |
0 |
0 |
0 |
4
|
Baylor Genetics
|
1
|
0 |
2
|
0 |
0 |
3
|
New York Genome Center
|
0 |
0 |
3
|
0 |
0 |
3
|
3billion
|
2
|
0 |
1
|
0 |
0 |
3
|
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
|
0 |
2
|
0 |
0 |
0 |
2
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
1
|
1
|
0 |
2
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
2
|
0 |
0 |
2
|
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill
|
0 |
0 |
2
|
0 |
0 |
2
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, Cologne University
|
0 |
1
|
0 |
0 |
0 |
1
|
MGZ Medical Genetics Center
|
0 |
1
|
0 |
0 |
0 |
1
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
0 |
1
|
0 |
0 |
0 |
1
|
Medicover Genetics GmbH, Medicover Humangenetik Berlin-Lichtenberg MVZ
|
1
|
0 |
0 |
0 |
0 |
1
|
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