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 |
|
28
|
9
|
233
|
26
|
29
|
321
|
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
|
TG
|
28
|
9
|
224
|
25
|
26
|
308
|
|
SLA, TG
|
0 |
0 |
9
|
1
|
3
|
13
|
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
|
Illumina Laboratory Services, Illumina
|
1
|
0 |
200
|
26
|
23
|
250
|
|
Revvity Omics, Revvity
|
2
|
1
|
25
|
0 |
0 |
28
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
17
|
17
|
|
OMIM
|
14
|
0 |
1
|
0 |
0 |
15
|
|
Baylor Genetics
|
2
|
0 |
10
|
0 |
0 |
12
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
1
|
1
|
2
|
0 |
0 |
4
|
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
2
|
1
|
0 |
0 |
4
|
|
Mendelics
|
0 |
0 |
2
|
0 |
1
|
3
|
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
2
|
0 |
1
|
0 |
0 |
3
|
|
3billion
|
1
|
1
|
1
|
0 |
0 |
3
|
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
1
|
1
|
0 |
0 |
0 |
2
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
1
|
1
|
0 |
0 |
0 |
2
|
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
2
|
0 |
0 |
0 |
0 |
2
|
|
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University
|
1
|
1
|
0 |
0 |
0 |
2
|
|
Genetic Services Laboratory, University of Chicago
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Division of Human Genetics, Children's Hospital of Philadelphia
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Pediatric Genetics Division, Center for Pediatrics and Adolescent Medicine, University Medical Center Freiburg
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Daryl Scott Lab, Baylor College of Medicine
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Center for Precision Medicine, Vanderbilt University Medical Center
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Weiss Lab, University of Miami
|
1
|
0 |
0 |
0 |
0 |
1
|
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