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 |
|
22
|
25
|
2
|
0 |
0 |
32
|
Gene and significance breakdown #
Total genes and gene combinations: 3
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
total |
|
Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital
|
0 |
15
|
0 |
15
|
|
OMIM
|
14
|
0 |
0 |
14
|
|
University of Washington Center for Mendelian Genomics, University of Washington
|
0 |
10
|
0 |
10
|
|
Cole/Wambach Lab, Washington University in St. Louis
|
9
|
1
|
0 |
10
|
|
Baylor Genetics
|
3
|
0 |
0 |
3
|
|
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris
|
2
|
1
|
0 |
3
|
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
2
|
2
|
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
1
|
1
|
0 |
2
|
|
DASA
|
0 |
2
|
0 |
2
|
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
0 |
1
|
|
DESAM Institute, Near East University
|
1
|
0 |
0 |
1
|
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