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 |
53
|
18
|
138
|
75
|
40
|
313
|
Gene and significance breakdown #
Total genes and gene combinations: 6
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Invitae
|
30
|
11
|
70
|
62
|
4
|
177
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
63
|
10
|
24
|
97
|
OMIM
|
23
|
0 |
0 |
0 |
1
|
24
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
12
|
12
|
Revvity Omics, Revvity
|
1
|
1
|
7
|
0 |
0 |
9
|
Fulgent Genetics, Fulgent Genetics
|
2
|
0 |
3
|
1
|
1
|
7
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
2
|
2
|
0 |
4
|
Baylor Genetics
|
1
|
1
|
1
|
0 |
0 |
3
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
2
|
0 |
1
|
0 |
0 |
3
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
2
|
0 |
1
|
0 |
0 |
3
|
Genetic Services Laboratory, University of Chicago
|
2
|
0 |
0 |
0 |
0 |
2
|
Centogene AG - the Rare Disease Company
|
0 |
2
|
0 |
0 |
0 |
2
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
1
|
0 |
0 |
0 |
2
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
1
|
0 |
1
|
0 |
0 |
2
|
Genomics Facility, Ludwig-Maximilians-Universität München
|
2
|
0 |
0 |
0 |
0 |
2
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
2
|
0 |
0 |
0 |
0 |
2
|
Institute of Immunology and Genetics Kaiserslautern
|
0 |
0 |
2
|
0 |
0 |
2
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Ulm
|
1
|
0 |
0 |
0 |
0 |
1
|
Mendelics
|
0 |
0 |
0 |
0 |
1
|
1
|
Division of Human Genetics, Children's Hospital of Philadelphia
|
0 |
1
|
0 |
0 |
0 |
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
1
|
0 |
0 |
1
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
0 |
1
|
0 |
1
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
0 |
1
|
0 |
0 |
0 |
1
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
1
|
0 |
0 |
0 |
1
|
3billion
|
0 |
0 |
1
|
0 |
0 |
1
|
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