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 |
6
|
7
|
32
|
3
|
2
|
2
|
50
|
Gene and significance breakdown #
Total genes and gene combinations: 3
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Illumina Laboratory Services, Illumina
|
0 |
0 |
25
|
3
|
1
|
0 |
29
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
0 |
3
|
0 |
0 |
0 |
4
|
Baylor Genetics
|
0 |
1
|
2
|
0 |
0 |
0 |
3
|
KTest Genetics, KTest
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
OMIM
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Leiden Muscular Dystrophy (TPM1)
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
Institute of Human Genetics, University of Goettingen
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Center for Medical Genetics Ghent, University of Ghent
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genomic Medicine Lab, University of California San Francisco
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
New York Genome Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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