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 |
|
55
|
12
|
226
|
356
|
45
|
2
|
664
|
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 |
|
Labcorp Genetics (formerly Invitae), Labcorp
|
47
|
6
|
184
|
342
|
34
|
0 |
613
|
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
44
|
12
|
24
|
0 |
80
|
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
2
|
6
|
4
|
0 |
12
|
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
1
|
0 |
4
|
0 |
0 |
0 |
5
|
|
OMIM
|
4
|
0 |
0 |
0 |
0 |
0 |
4
|
|
Fulgent Genetics, Fulgent Genetics
|
0 |
3
|
1
|
0 |
0 |
0 |
4
|
|
Baylor Genetics
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
|
Revvity Omics, Revvity
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
|
Mendelics
|
1
|
0 |
0 |
0 |
2
|
0 |
3
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
3
|
0 |
3
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
|
Inserm U 954, Faculté de Médecine de Nancy
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
|
Centre for Inherited Metabolic Diseases, Karolinska University Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
|
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Breda Genetics srl
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
3billion
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Suma Genomics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Genomics England Pilot Project, Genomics England
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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