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
|
5
|
44
|
20
|
37
|
108
|
Gene and significance breakdown #
Total genes and gene combinations: 1
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
TGM6
|
8
|
5
|
44
|
20
|
37
|
108
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Illumina Laboratory Services, Illumina
|
0 |
0 |
25
|
18
|
36
|
79
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
8
|
8
|
Revvity Omics, Revvity
|
0 |
0 |
6
|
0 |
0 |
6
|
OMIM
|
5
|
0 |
0 |
0 |
0 |
5
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
5
|
5
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
0 |
5
|
5
|
Mendelics
|
0 |
0 |
1
|
0 |
2
|
3
|
O&I group, Department of Genetics, University Medical Center of Groningen
|
2
|
0 |
1
|
0 |
0 |
3
|
Institute of Human Genetics, University of Goettingen
|
0 |
1
|
1
|
0 |
0 |
2
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
0 |
2
|
0 |
0 |
2
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
1
|
1
|
0 |
0 |
0 |
2
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
2
|
0 |
0 |
2
|
Baylor Genetics
|
0 |
0 |
1
|
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
0 |
0 |
1
|
0 |
0 |
1
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
1
|
0 |
0 |
0 |
1
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
0 |
1
|
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
1
|
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
1
|
0 |
0 |
1
|
Codex Genetics Limited
|
1
|
0 |
0 |
0 |
0 |
1
|
New York Genome Center
|
0 |
0 |
1
|
0 |
0 |
1
|
Pars Genome Lab
|
0 |
0 |
0 |
1
|
0 |
1
|
3billion
|
0 |
1
|
0 |
0 |
0 |
1
|
Solve-RD Consortium
|
0 |
1
|
0 |
0 |
0 |
1
|
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