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 |
56
|
128
|
208
|
26
|
16
|
1
|
396
|
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 |
Natera, Inc.
|
9
|
3
|
96
|
17
|
13
|
0 |
138
|
Baylor Genetics
|
36
|
75
|
2
|
0 |
0 |
0 |
113
|
Illumina Laboratory Services, Illumina
|
1
|
0 |
75
|
7
|
9
|
0 |
92
|
Counsyl
|
8
|
32
|
27
|
1
|
0 |
0 |
68
|
Fulgent Genetics, Fulgent Genetics
|
6
|
5
|
25
|
2
|
0 |
0 |
38
|
Molecular Lab, Department of Haematology, Christian Medical College
|
13
|
0 |
1
|
0 |
0 |
0 |
14
|
Myriad Genetics, Inc.
|
1
|
11
|
1
|
0 |
0 |
0 |
13
|
Revvity Omics, Revvity
|
4
|
3
|
4
|
0 |
0 |
0 |
11
|
Genome-Nilou Lab
|
0 |
0 |
2
|
1
|
5
|
0 |
8
|
3billion
|
3
|
3
|
2
|
0 |
0 |
0 |
8
|
OMIM
|
7
|
0 |
0 |
0 |
0 |
0 |
7
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
0 |
3
|
1
|
0 |
0 |
0 |
4
|
Neuberg Centre For Genomic Medicine, NCGM
|
1
|
1
|
2
|
0 |
0 |
0 |
4
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Hadassah Hebrew University Medical Center
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Hereditary Research Laboratory, Bethlehem University
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Center for Molecular Medicine, Children’s Hospital of Fudan University
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Mendelics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Undiagnosed Diseases Network, NIH
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genomics Facility, Ludwig-Maximilians-Universität München
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Pars Genome Lab
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
DASA
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska"
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Payam Genetics Center, General Welfare Department of North Khorasan Province
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
MVZ Medizinische Genetik Mainz
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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