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 |
46
|
15
|
144
|
279
|
20
|
487
|
Gene and significance breakdown #
Total genes and gene combinations: 5
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Invitae
|
34
|
11
|
118
|
269
|
17
|
449
|
Illumina Laboratory Services, Illumina
|
1
|
0 |
30
|
9
|
7
|
47
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
5
|
3
|
0 |
0 |
0 |
8
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
6
|
6
|
OMIM
|
5
|
0 |
0 |
0 |
0 |
5
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
1
|
3
|
0 |
4
|
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre
|
1
|
1
|
0 |
0 |
0 |
2
|
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela
|
2
|
0 |
0 |
0 |
0 |
2
|
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
|
2
|
0 |
0 |
0 |
0 |
2
|
Undiagnosed Diseases Network, NIH
|
1
|
0 |
1
|
0 |
0 |
2
|
Baylor Genetics
|
0 |
1
|
0 |
0 |
0 |
1
|
Revvity Omics, Revvity Omics
|
1
|
0 |
0 |
0 |
0 |
1
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
0 |
0 |
0 |
1
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
0 |
0 |
0 |
1
|
0 |
1
|
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS
|
1
|
0 |
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
1
|
0 |
0 |
1
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
1
|
0 |
0 |
0 |
1
|
3billion
|
1
|
0 |
0 |
0 |
0 |
1
|
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