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 |
|
13
|
20
|
14
|
7
|
25
|
1
|
75
|
Gene and significance breakdown #
Total genes and gene combinations: 2
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
11
|
7
|
23
|
0 |
41
|
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
2
|
1
|
0 |
1
|
6
|
0 |
10
|
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
3
|
2
|
3
|
0 |
0 |
0 |
8
|
|
OMIM
|
4
|
0 |
0 |
0 |
0 |
0 |
4
|
|
Revvity Omics, Revvity
|
1
|
3
|
0 |
0 |
0 |
0 |
4
|
|
Fulgent Genetics, Fulgent Genetics
|
3
|
1
|
0 |
0 |
0 |
0 |
4
|
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
1
|
3
|
0 |
0 |
0 |
0 |
4
|
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
Baylor Genetics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
MGZ Medical Genetics Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Mendelics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Molecular Genetics, Royal Melbourne Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Gemeinschaftspraxis fuer Humangenetik Dresden
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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