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 |
33
|
18
|
61
|
7
|
21
|
2
|
140
|
Gene and significance breakdown #
Total genes and gene combinations: 3
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Baylor Genetics
|
1
|
0 |
29
|
0 |
0 |
0 |
30
|
Revvity Omics, Revvity Omics
|
4
|
1
|
17
|
1
|
0 |
0 |
23
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
20
|
0 |
20
|
Dobyns Lab, Seattle Children's Research Institute
|
8
|
0 |
2
|
0 |
0 |
0 |
10
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
2
|
6
|
0 |
0 |
8
|
Sayer Lab, Translational and Clinical Research Institute, Newcastle Unversity
|
6
|
1
|
0 |
0 |
0 |
0 |
7
|
OMIM
|
5
|
0 |
0 |
0 |
0 |
0 |
5
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
4
|
0 |
0 |
0 |
5
|
MGZ Medical Genetics Center
|
2
|
1
|
1
|
0 |
0 |
0 |
4
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
2
|
2
|
0 |
0 |
0 |
0 |
4
|
Mendelics
|
0 |
0 |
0 |
0 |
3
|
0 |
3
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Undiagnosed Diseases Network, NIH
|
1
|
1
|
1
|
0 |
0 |
0 |
3
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Genomic Medicine Lab, University of California San Francisco
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Provincial Medical Genetics Program of British Columbia, University of British Columbia
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, Cologne University
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Center for Medical Genetics Ghent, University of Ghent
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Broad Institute Rare Disease Group, Broad Institute
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence,
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University Hospital Muenster
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Suma Genomics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
DASA
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Eurofins-Biomnis
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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