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 |
40
|
2
|
262
|
50
|
70
|
1
|
416
|
Gene and significance breakdown #
Total genes and gene combinations: 5
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Illumina Clinical Services Laboratory,Illumina
|
0 |
0 |
239
|
33
|
64
|
0 |
336
|
Invitae
|
0 |
0 |
27
|
18
|
11
|
0 |
56
|
OMIM
|
25
|
0 |
0 |
0 |
0 |
0 |
25
|
GeneReviews
|
14
|
0 |
0 |
0 |
0 |
0 |
14
|
Baylor Genetics
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Genetic Services Laboratory,University of Chicago
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Department of Genetics,Sultan Qaboos University Hospital, Oman
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Fulgent Genetics,Fulgent Genetics
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department of Medical Genetics,Sanjay Gandhi Post Graduate Institute of Medical Sciences
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Ege University Pediatric Genetics,Ege University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Broad Institute Rare Disease Group,Broad Institute
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Pathology and Clinical Laboratory Medicine,King Fahad Medical City
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
GenomeConnect - CFC International
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
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