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 |
54
|
9
|
109
|
29
|
40
|
239
|
Gene and significance breakdown #
Total genes and gene combinations: 6
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Invitae
|
28
|
5
|
107
|
28
|
40
|
208
|
UW Hindbrain Malformation Research Program,University of Washington
|
17
|
0 |
0 |
0 |
0 |
17
|
OMIM
|
13
|
0 |
0 |
0 |
0 |
13
|
Laboratory of Medical Genetics, INSERM
|
4
|
0 |
0 |
0 |
0 |
4
|
Genetic Services Laboratory,University of Chicago
|
2
|
1
|
0 |
0 |
0 |
3
|
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
|
0 |
0 |
2
|
0 |
0 |
2
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
0 |
1
|
0 |
1
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare
|
1
|
0 |
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics,University Medical Centre Ljubljana
|
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
1
|
0 |
0 |
1
|
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City
|
1
|
0 |
0 |
0 |
0 |
1
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
1
|
0 |
0 |
0 |
0 |
1
|
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill
|
0 |
1
|
0 |
0 |
0 |
1
|
Johns Hopkins Genomics,Johns Hopkins University
|
0 |
1
|
0 |
0 |
0 |
1
|
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn
|
0 |
1
|
0 |
0 |
0 |
1
|
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